Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162964 Orphanet classification of rare bone diseases 93419 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93419 Rare bone disease Category 68411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68411 Rare bone tumor Category 178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 Chordoma Disease 480553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480553 Aneurysmal bone cyst Disease 296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 Ollier disease Disease 2760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 OSLAM syndrome Malformation syndrome 321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 Multiple osteochondromas Disease 55881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881 Adamantinoma Disease 58040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58040 Osteoblastoma Disease 83468 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83468 Solitary bone cyst Disease 85182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 Diaphyseal medullary stenosis-bone malignancy syndrome Disease 163634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 Maffucci syndrome Disease 223727 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223727 Bone sarcoma Clinical group 2023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023 Undifferentiated pleomorphic sarcoma Disease 2030 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030 Fibrosarcoma Disease 668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668 Osteosarcoma Disease 319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319 Skeletal Ewing sarcoma Disease 55880 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880 Chondrosarcoma Disease 363976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363976 Giant cell tumor of bone Disease 370348 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348 Peripheral primitive neuroectodermal tumor Disease 404507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507 Chondromyxoid fibroma Disease 435329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329 Familial ossifying fibroma Disease 696078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696078 Central giant cell granuloma Disease 93448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93448 Lysosomal storage disease with skeletal involvement Category 61 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 Alpha-mannosidosis Disease 309288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 Alpha-mannosidosis, adult form Clinical subtype 309282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 Alpha-mannosidosis, infantile form Clinical subtype 93 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 Aspartylglucosaminuria Disease 585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 Multiple sulfatase deficiency Disease 118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 Beta-mannosidosis Disease 349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 Fucosidosis Disease 583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 Mucopolysaccharidosis type 6 Disease 276212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 Mucopolysaccharidosis type 6, rapidly progressing Clinical subtype 276223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 Mucopolysaccharidosis type 6, slowly progressing Clinical subtype 576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 Mucolipidosis type II Disease 577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 Mucolipidosis type III Disease 423461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 Mucolipidosis type III alpha/beta Clinical subtype 423470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 Mucolipidosis type III gamma Clinical subtype 584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 Mucopolysaccharidosis type 7 Disease 580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 Mucopolysaccharidosis type 2 Disease 217085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 Mucopolysaccharidosis type 2, severe form Clinical subtype 217093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 Mucopolysaccharidosis type 2, attenuated form Clinical subtype 579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 Mucopolysaccharidosis type 1 Disease 93473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 Hurler syndrome Clinical subtype 93474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 Scheie syndrome Clinical subtype 93476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 Hurler-Scheie syndrome Clinical subtype 351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 Galactosialidosis Disease 309324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 Free sialic acid storage disease, infantile form Clinical subtype 354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 GM1 gangliosidosis Disease 79255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 GM1 gangliosidosis type 1 Clinical subtype 79256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 GM1 gangliosidosis type 2 Clinical subtype 79257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 GM1 gangliosidosis type 3 Clinical subtype 581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 Mucopolysaccharidosis type 3 Disease 79269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 Sanfilippo syndrome type A Etiological subtype 79270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 Sanfilippo syndrome type B Etiological subtype 79271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 Sanfilippo syndrome type C Etiological subtype 79272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 Sanfilippo syndrome type D Etiological subtype 582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 Mucopolysaccharidosis type 4 Disease 309310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 Mucopolysaccharidosis type 4B Clinical subtype 309297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 Mucopolysaccharidosis type 4A Clinical subtype 67041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 Hyaluronidase deficiency Disease 87876 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 Sialidosis type 2 Disease 93399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 Juvenile sialidosis type 2 Clinical subtype 93400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 Congenital sialidosis type 2 Clinical subtype 662216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 Mucopolysaccharidosis type 10 Disease 168621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621 Dysplasia of head of femur, Meyer type Disease 235832 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235832 Congenital vascular bone syndrome Clinical group 73 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 Gorham-Stout disease Malformation syndrome 140436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 Familial intraosseous vascular malformation Disease 90307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 Parkes Weber syndrome Disease 300493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493 Sagliker syndrome Particular clinical situation in a disease or syndrome 352540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540 Oncogenic osteomalacia Disease 364526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364526 Primary bone dysplasia Category 498445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498445 Genetic inflammatory or rheumatoid-like osteoarthropathy Category 1159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 Progressive pseudorheumatoid dysplasia Disease 498474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474 Hyaline fibromatosis syndrome Disease 2028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 Juvenile hyaline fibromatosis Clinical subtype 2176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 Infantile systemic hyalinosis Clinical subtype 1451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 CINCA syndrome Disease 210115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 Sterile multifocal osteomyelitis with periostitis and pustulosis Disease 77297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 Majeed syndrome Disease 53715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 Familial tumoral calcinosis Disease 306658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 Familial normophosphatemic tumoral calcinosis Clinical subtype 306661 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome Clinical subtype 498448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498448 Overgrowth or tall stature syndrome with skeletal involvement Category 622925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925 X-linked severe syndromic thoracic aortic aneurysm and dissection Malformation syndrome 659387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 PRC-2 complex-related overgrowth spectrum Clinical group 3447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 Weaver syndrome Malformation syndrome 659396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 Cohen-Gibson syndrome Malformation syndrome 659463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 Imagawa-Matsumoto syndrome Malformation syndrome 558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 Marfan syndrome Disease 284963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 Marfan syndrome type 1 Clinical subtype 284973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 Marfan syndrome type 2 Clinical subtype 821 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 Sotos syndrome Disease 561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 Marshall-Smith syndrome Malformation syndrome 744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 Proteus syndrome Malformation syndrome 140944 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 CLOVES syndrome Malformation syndrome 115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 Congenital contractural arachnodactyly Malformation syndrome 60030 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 Loeys-Dietz syndrome Malformation syndrome 498488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 Overgrowth syndrome with 2q37 translocation Malformation syndrome 329191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 Tall stature-long halluces-multiple extra-epiphyses syndrome Disease 498485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Malformation syndrome 477831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831 Kosaki overgrowth syndrome Malformation syndrome 597738 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 Luscan-Lumish syndrome Malformation syndrome 364536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364536 Primary bone dysplasia with micromelia Category 15 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 Achondroplasia Disease 429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 Hypochondroplasia Disease 628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 Diastrophic dysplasia Disease 2655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 Thanatophoric dysplasia Disease 1860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 Thanatophoric dysplasia type 1 Clinical subtype 93274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 Thanatophoric dysplasia type 2 Clinical subtype 1422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 Chondrodysplasia-difference of sex development syndrome Malformation syndrome 85165 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Disease 364541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364541 Otopalatodigital syndrome spectrum disorder Clinical group 90652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 Otopalatodigital syndrome type 2 Malformation syndrome 1826 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 Frontometaphyseal dysplasia Disease 2484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 Melnick-Needles syndrome Malformation syndrome 90650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 Otopalatodigital syndrome type 1 Malformation syndrome 137834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 Frank-Ter Haar syndrome Disease 435804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome Disease 253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Clinical group 664377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664377 MGP-related spondyloepiphyseal dysplasia Malformation syndrome 642099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type Disease 1458 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 CODAS syndrome Malformation syndrome 2114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114 Hip dysplasia, Beukes type Disease 800 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 Schwartz-Jampel syndrome Disease 239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 Dyggve-Melchior-Clausen disease Disease 560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 Marshall syndrome Malformation syndrome 2635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 Metatropic dysplasia Disease 828 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 Stickler syndrome Disease 90653 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 Stickler syndrome type 1 Clinical subtype 90654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 Stickler syndrome type 2 Clinical subtype 250984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 Autosomal recessive Stickler syndrome Clinical subtype 1159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 Progressive pseudorheumatoid dysplasia Disease 1427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 Autosomal recessive otospondylomegaepiphyseal dysplasia Disease 1667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 Wolcott-Rallison syndrome Disease 1830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 Schimke immuno-osseous dysplasia Disease 1865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 Dyssegmental dysplasia, Silverman-Handmaker type Disease 485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 Kniest dysplasia Disease 3101 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 Richieri Costa-da Silva syndrome Malformation syndrome 1856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 Spondyloperipheral dysplasia-short ulna syndrome Disease 83629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Disease 2619 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619 Brachydactylous dwarfism, Mseleni type Disease 93279 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Disease 93282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type Disease 93283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 Spondyloepiphyseal dysplasia, Kimberley type Disease 93284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 Spondyloepiphyseal dysplasia tarda Disease 93346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type Disease 93347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 Anauxetic dysplasia Disease 93349 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 X-linked spondyloepimetaphyseal dysplasia Disease 93351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351 Spondyloepimetaphyseal dysplasia, Irapa type Disease 93352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 Spondyloepimetaphyseal dysplasia, Shohat type Disease 93356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 Spondyloepimetaphyseal dysplasia, Missouri type Disease 93357 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357 SPONASTRIME dysplasia Disease 93358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Disease 93360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Disease 94068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 Spondyloepiphyseal dysplasia congenita Disease 99642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642 Spondyloepimetaphyseal dysplasia, Handigodu type Disease 137678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 Spondyloepiphyseal dysplasia with metatarsal shortening Disease 156728 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type Disease 156731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731 Dyssegmental dysplasia, Rolland-Desbuquois type Disease 157965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype 163649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Disease 163654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome Disease 163662 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662 Spondyloepiphyseal dysplasia, Reardon type Disease 163665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 Spondyloepiphyseal dysplasia tarda, Kohn type Disease 163668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 Spondyloepiphyseal dysplasia, MacDermot type Malformation syndrome 166100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 Autosomal dominant otospondylomegaepiphyseal dysplasia Malformation syndrome 168443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Disease 168451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Disease 168454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 Spondyloepimetaphyseal dysplasia, Geneviève type Disease 171866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 Spondyloepimetaphyseal dysplasia, aggrecan type Disease 178355 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 Smith-McCort dysplasia Disease 228387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387 Spondylo-megaepiphyseal-metaphyseal dysplasia Disease 263482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 Spondyloepimetaphyseal dysplasia, Maroteaux type Disease 353298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 Roifman syndrome Disease 370015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type Disease 420794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 Cono-spondylar dysplasia Malformation syndrome 436174 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Disease 642085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity Disease 496751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 EVEN-plus syndrome Malformation syndrome 611207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome Clinical syndrome 457395 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Malformation syndrome 459070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome Malformation syndrome 459051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 Spondyloepiphyseal dysplasia, Stanescu type Disease 254 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254 Spondylometaphyseal dysplasia Clinical group 168555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555 Spondylometaphyseal dysplasia, A4 type Disease 448267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267 Regressive spondylometaphyseal dysplasia Malformation syndrome 1855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 Spondyloenchondrodysplasia Malformation syndrome 85167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Disease 93314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 Spondylometaphyseal dysplasia, Kozlowski type Disease 93315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 Spondylometaphyseal dysplasia, 'corner fracture' type Disease 93316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 Spondylometaphyseal dysplasia, Schmidt type Disease 166272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 Odontochondrodysplasia Malformation syndrome 168544 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544 Spondylometaphyseal dysplasia, Golden type Disease 168549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 Axial spondylometaphyseal dysplasia Disease 168552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Disease 589435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome Malformation syndrome 93426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426 Ciliopathies with major skeletal involvement Category 1505 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 Short rib-polydactyly syndrome Clinical group 498497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497 Short rib-polydactyly syndrome type 5 Malformation syndrome 474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 Jeune syndrome Malformation syndrome 289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 Ellis Van Creveld syndrome Malformation syndrome 1515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 Cranioectodermal dysplasia Malformation syndrome 93268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 Short rib-polydactyly syndrome, Beemer-Langer type Malformation syndrome 93269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 Short rib-polydactyly syndrome, Majewski type Malformation syndrome 93270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 Short rib-polydactyly syndrome, Saldino-Noonan type Malformation syndrome 93271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 Short rib-polydactyly syndrome, Verma-Naumoff type Malformation syndrome 397715 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Malformation syndrome 1803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803 Thoracomelic dysplasia Disease 2753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 Orofaciodigital syndrome type 4 Malformation syndrome 3317 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 Thoracolaryngopelvic dysplasia Malformation syndrome 140969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 Saldino-Mainzer syndrome Disease 464366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366 NEK9-related lethal skeletal dysplasia Malformation syndrome 1861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 Thoracic dysplasia-hydrocephalus syndrome Malformation syndrome 93429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429 Multiple epiphyseal dysplasia and pseudoachondroplasia Category 251 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251 Multiple epiphyseal dysplasia Clinical group 93307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 Multiple epiphyseal dysplasia type 4 Disease 93308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 Multiple epiphyseal dysplasia type 1 Disease 93311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 Multiple epiphyseal dysplasia type 5 Disease 166002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly Disease 166016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016 Multiple epiphyseal dysplasia, Lowry type Disease 166024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome Disease 166029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome Disease 166032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome Disease 647676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676 Multiple epiphyseal dysplasia type 7 Disease 1824 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824 Lowry-Wood syndrome Disease 750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 Pseudoachondroplasia Disease 250984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 Autosomal recessive Stickler syndrome Clinical subtype 93430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430 Multiple metaphyseal dysplasia Clinical group 1040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 Metaphyseal anadysplasia Disease 79106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 Eiken syndrome Malformation syndrome 174 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 Metaphyseal chondrodysplasia, Schmid type Disease 1837 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837 Metaphyseal chondrodysplasia, Rosenberg type Disease 2501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501 Metaphyseal chondrodysplasia, Spahr type Disease 2502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Malformation syndrome 2504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Malformation syndrome 175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 Cartilage-hair hypoplasia Disease 811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 Shwachman-Diamond syndrome Disease 33067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 Metaphyseal chondrodysplasia, Jansen type Disease 166038 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038 Metaphyseal chondrodysplasia, Kaitila type Disease 93434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434 Spondylodysplastic dysplasia Clinical group 622934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 SBDS-related severe neonatal spondylometaphyseal dysplasia Malformation syndrome 2746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 Opsismodysplasia Disease 932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932 Achondrogenesis Disease 93296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 Achondrogenesis type 2 Clinical subtype 93297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 Hypochondrogenesis Clinical subtype 93298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 Achondrogenesis type 1B Clinical subtype 93299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 Achondrogenesis type 1A Clinical subtype 1293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293 Brachyolmia Clinical group 448242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242 Autosomal recessive brachyolmia Malformation syndrome 2899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 Brachyolmia-amelogenesis imperfecta syndrome Malformation syndrome 93302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302 Brachyolmia, Maroteaux type Malformation syndrome 93304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 Autosomal dominant brachyolmia Malformation syndrome 1436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 X-linked skeletal dysplasia-intellectual disability syndrome Malformation syndrome 3144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 Schneckenbecken dysplasia Malformation syndrome 3180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180 Spondylocamptodactyly syndrome Malformation syndrome 3275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 Spondylocarpotarsal synostosis Malformation syndrome 66637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 Diaphanospondylodysostosis Malformation syndrome 85166 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166 Platyspondylic dysplasia, Torrance type Malformation syndrome 93317 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 Spondylometaphyseal dysplasia, Sedaghatian type Malformation syndrome 401979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Malformation syndrome 508533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome Disease 93436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436 Acromelic dysplasia Clinical group 623695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 MIR140-related spondyloepiphyseal dysplasia Malformation syndrome 464288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 Short stature-brachydactyly-obesity-global developmental delay syndrome Malformation syndrome 3449 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 Weill-Marchesani syndrome Malformation syndrome 950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 Acrodysostosis Malformation syndrome 969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969 Acromicric dysplasia Malformation syndrome 2623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 Geleophysic dysplasia Malformation syndrome 3041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 Intellectual disability-balding-patella luxation-acromicria syndrome Malformation syndrome 63442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 Angel-shaped phalango-epiphyseal dysplasia Malformation syndrome 63446 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 Acrocapitofemoral dysplasia Malformation syndrome 85168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168 Craniofacial conodysplasia Malformation syndrome 88630 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 Terminal osseous dysplasia-pigmentary defects syndrome Malformation syndrome 324764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764 Trichorhinophalangeal syndrome Clinical group 502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 Trichorhinophalangeal syndrome type 2 Malformation syndrome 77258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 Trichorhinophalangeal syndrome type 1 Malformation syndrome 2588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 Myhre syndrome Malformation syndrome 457059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy Clinical group 79443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 Pseudohypoparathyroidism type 1A Disease 79444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 Pseudohypoparathyroidism type 1C Disease 79445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 Pseudopseudohypoparathyroidism Disease 93437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437 Acromesomelic dysplasia Clinical group 968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968 Acromesomelic dysplasia, Hunter-Thompson type Malformation syndrome 40 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40 Acromesomelic dysplasia, Maroteaux type Malformation syndrome 2098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 Acromesomelic dysplasia, Grebe type Malformation syndrome 2496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496 Mesomelia-synostoses syndrome Malformation syndrome 2639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 Fibular aplasia-complex brachydactyly syndrome Malformation syndrome 93382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 Brachydactyly type A6 Malformation syndrome 93438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438 Mesomelic and rhizo-mesomelic dysplasia Clinical group 240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240 Léri-Weill dyschondrosteosis Malformation syndrome 1453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453 Cleidorhizomelic syndrome Malformation syndrome 1836 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836 Mesomelic dysplasia, Kantaputra type Malformation syndrome 2021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 Fibrochondrogenesis Disease 2497 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497 Upper limb mesomelic dysplasia, type Fryns Malformation syndrome 2631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome Malformation syndrome 2632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 Langer mesomelic dysplasia Malformation syndrome 2633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633 Mesomelic dysplasia, Nievergelt type Malformation syndrome 2634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type Malformation syndrome 2733 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733 Omodysplasia Malformation syndrome 93328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 Autosomal dominant omodysplasia Clinical subtype 93329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 Autosomal recessive omodysplasia Clinical subtype 3098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098 Rhizomelic syndrome, Urbach type Malformation syndrome 2831 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831 Rhizomelic dysplasia, Patterson-Lowry type Malformation syndrome 56304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 Atelosteogenesis type II Malformation syndrome 85170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170 Mesomelic dysplasia, Savarirayan type Malformation syndrome 97360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 Robinow syndrome Malformation syndrome 1507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 Autosomal recessive Robinow syndrome Clinical subtype 3107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 Autosomal dominant Robinow syndrome Clinical subtype 314795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795 SHOX-related short stature Disease 397623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Malformation syndrome 424099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome Malformation syndrome 440354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome Malformation syndrome 163966 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type Disease 611223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 EN1-related dorsoventral syndrome Malformation syndrome 580940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 QRICH1-related intellectual disability-chondrodysplasia syndrome Malformation syndrome 632603 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome Malformation syndrome 93439 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439 Campomelic dysplasia and related disorders Clinical group 656283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Disease 140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 Campomelic dysplasia Malformation syndrome 1318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 Campomelia, Cumming type Malformation syndrome 1801 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801 Kyphomelic dysplasia Malformation syndrome 2768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768 Blount disease Malformation syndrome 3344 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344 Weismann-Netter syndrome Malformation syndrome 3206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 Stüve-Wiedemann syndrome Malformation syndrome 313855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 FGFR2-related bent bone dysplasia Disease 324307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Malformation syndrome 93440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440 Slender bone dysplasia Clinical group 2333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 Kenny-Caffey syndrome Malformation syndrome 93324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 Autosomal recessive Kenny-Caffey syndrome Etiological subtype 93325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 Autosomal dominant Kenny-Caffey syndrome Etiological subtype 2616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 3M syndrome Malformation syndrome 2763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 Osteocraniostenosis Malformation syndrome 85173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 IMAGe syndrome Malformation syndrome 314394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Disease 1506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506 Thin ribs-tubular bones-dysmorphism syndrome Malformation syndrome 2108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 Hallermann-Streiff syndrome Malformation syndrome 808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 Seckel syndrome Malformation syndrome 2554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 Ear-patella-short stature syndrome Malformation syndrome 2637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 Microcephalic osteodysplastic primordial dwarfism type II Malformation syndrome 50811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 Lipodystrophy-intellectual disability-deafness syndrome Disease 2643 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 Microcephalic primordial dwarfism, Toriello type Malformation syndrome 2636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 Microcephalic osteodysplastic primordial dwarfism types I and III Malformation syndrome 85172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type Disease 2109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 Hallermann-Streiff-like syndrome Malformation syndrome 572761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum Malformation syndrome 572768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 Microcephaly-micromelia syndrome Clinical subtype 572773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 Microcephaly-short stature-limb abnormalities syndrome Clinical subtype 93441 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441 Primary bone dysplasia with multiple joint dislocations Clinical group 93360 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Disease 2370 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370 Larsen-like osseous dysplasia-short stature syndrome Malformation syndrome 1190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 Atelosteogenesis type I Malformation syndrome 114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114 Auriculoosteodysplasia Malformation syndrome 1263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 Boomerang dysplasia Disease 1425 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 Desbuquois syndrome Malformation syndrome 1508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508 Coxoauricular syndrome Malformation syndrome 2371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371 Lethal Larsen-like syndrome Malformation syndrome 503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 Larsen syndrome Malformation syndrome 56305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 Atelosteogenesis type III Malformation syndrome 85174 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174 Pseudodiastrophic dysplasia Malformation syndrome 263463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 CHST3-related skeletal dysplasia Disease 280586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 Chondrodysplasia with joint dislocations, gPAPP type Malformation syndrome 284139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 Larsen-like syndrome, B3GAT3 type Malformation syndrome 438117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117 Steel syndrome Disease 527450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 Severe myopia-generalized joint laxity-short stature syndrome Malformation syndrome 589442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome Malformation syndrome 642099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type Disease 642085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity Disease 93442 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442 Chondrodysplasia punctata Clinical group 1426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 Greenberg dysplasia Disease 139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 CHILD syndrome Disease 177 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 Rhizomelic chondrodysplasia punctata Disease 309803 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 Rhizomelic chondrodysplasia punctata type 3 Etiological subtype 309789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 Rhizomelic chondrodysplasia punctata type 1 Etiological subtype 309796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 Rhizomelic chondrodysplasia punctata type 2 Etiological subtype 468717 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 Rhizomelic chondrodysplasia punctata type 5 Etiological subtype 176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176 Non-rhizomelic chondrodysplasia punctata Clinical group 35173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 X-linked dominant chondrodysplasia punctata Disease 79345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 Brachytelephalangic chondrodysplasia punctata Malformation syndrome 79346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346 Chondrodysplasia punctata, tibial-metacarpal type Malformation syndrome 79347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347 Chondrodysplasia punctata, Toriello type Malformation syndrome 85175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175 Astley-Kendall dysplasia Malformation syndrome 85202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 Keutel syndrome Malformation syndrome 93444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444 Primary bone dysplasia with increased bone density Category 2801 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 Juvenile Paget disease Malformation syndrome 1328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 Camurati-Engelmann disease Malformation syndrome 1513 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 Craniodiaphyseal dysplasia Malformation syndrome 1522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 Craniometaphyseal dysplasia Malformation syndrome 1798 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome Malformation syndrome 1802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802 Ghosal hematodiaphyseal dysplasia Malformation syndrome 2658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 Lenz-Majewski hyperostotic dysplasia Malformation syndrome 2710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 Oculodentodigital dysplasia Malformation syndrome 2779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome Malformation syndrome 2790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 Endosteal hyperostosis, Worth type Malformation syndrome 3005 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005 Pyle disease Disease 3152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152 Sclerosteosis Malformation syndrome 3352 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 Tricho-dento-osseous syndrome Malformation syndrome 3416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 Hyperostosis corticalis generalisata Malformation syndrome 646139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139 Dysplastic cortical hyperostosis Malformation syndrome 2204 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Clinical subtype 646136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136 Dysplastic cortical hyperostosis, Al-Gazali type Clinical subtype 2781 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781 Osteopetrosis and related disorders Clinical group 94063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 12q14 microdeletion syndrome Malformation syndrome 166119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 Isolated osteopoikilosis Disease 178389 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 Osteopetrosis-hypogammaglobulinemia syndrome Disease 210110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 Intermediate osteopetrosis Malformation syndrome 53 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 Albers-Schönberg osteopetrosis Malformation syndrome 2785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 Osteopetrosis with renal tubular acidosis Disease 763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 Pycnodysostosis Disease 1782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 Dysosteosclerosis Malformation syndrome 1879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 Melorheostosis with osteopoikilosis Malformation syndrome 2485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485 Melorheostosis Malformation syndrome 2777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777 Osteomesopyknosis Malformation syndrome 2780 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 Osteopathia striata-cranial sclerosis syndrome Malformation syndrome 667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 Autosomal recessive malignant osteopetrosis Malformation syndrome 2783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 Autosomal dominant osteopetrosis type 1 Malformation syndrome 69088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Disease 85179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 Infantile osteopetrosis with neuroaxonal dysplasia Malformation syndrome 99844 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 Leukocyte adhesion deficiency type III Clinical subtype 500548 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 Osteosclerotic metaphyseal dysplasia Malformation syndrome 556985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia Disease 603494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome Malformation syndrome 75325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome Disease 85182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 Diaphyseal medullary stenosis-bone malignancy syndrome Disease 85184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184 Craniometadiaphyseal dysplasia, wormian bone type Malformation syndrome 85186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 Endosteal sclerosis-cerebellar hypoplasia syndrome Malformation syndrome 85188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188 Metaphyseal dysplasia, Braun-Tinschert type Malformation syndrome 93443 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443 Neonatal osteosclerotic dysplasia Clinical group 1310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 Caffey disease Malformation syndrome 1832 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832 Osteosclerotic bone dysplasia Malformation syndrome 35107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 Desmosterolosis Disease 50945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 Blomstrand lethal chondrodysplasia Malformation syndrome 248095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095 Primary hypertrophic osteoarthropathy Clinical group 1525 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525 Cranio-osteoarthropathy Malformation syndrome 2796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 Pachydermoperiostosis Malformation syndrome 314029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029 High bone mass osteogenesis imperfecta Disease 324364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations Disease 391327 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327 X-linked calvarial hyperostosis Disease 443098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098 Hyperostosis cranialis interna Disease 93446 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446 Primary bone dysplasia with decreased bone density Category 2771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 Bruck syndrome Malformation syndrome 2772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Malformation syndrome 2773 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Malformation syndrome 666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 Osteogenesis imperfecta Disease 216796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 Osteogenesis imperfecta type 1 Clinical subtype 216804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 Osteogenesis imperfecta type 2 Clinical subtype 216812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 Osteogenesis imperfecta type 3 Clinical subtype 216820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 Osteogenesis imperfecta type 4 Clinical subtype 216828 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828 Osteogenesis imperfecta type 5 Clinical subtype 2050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 Cole-Carpenter syndrome Malformation syndrome 2078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 Geroderma osteodysplastica Malformation syndrome 2097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097 Grant syndrome Malformation syndrome 2324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 Osteopenia-intellectual disability-sparse hair syndrome Malformation syndrome 2786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786 Osteoporosis-oculocutaneous hypopigmentation syndrome Malformation syndrome 2788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 Osteoporosis-pseudoglioma syndrome Disease 457378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378 Complex lethal osteochondrodysplasia Malformation syndrome 53697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 Gnathodiaphyseal dysplasia Malformation syndrome 85191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 Singleton-Merten dysplasia Malformation syndrome 85192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192 Calvarial doughnut lesions-bone fragility syndrome Malformation syndrome 85193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 Idiopathic juvenile osteoporosis Malformation syndrome 85194 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 Spondylo-ocular syndrome Malformation syndrome 90350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 Autosomal recessive cutis laxa type 2 Clinical group 357058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 Autosomal recessive cutis laxa type 2A Disease 2834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 Wrinkly skin syndrome Clinical subtype 357074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 Autosomal recessive cutis laxa type 2, classic type Clinical subtype 357064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 Autosomal recessive cutis laxa type 2B Disease 166277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Malformation syndrome 230857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 Ehlers-Danlos/osteogenesis imperfecta syndrome Disease 314667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 TMEM165-CDG Disease 319195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 Chondroectodermal dysplasia with night blindness Disease 391330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330 X-linked osteoporosis with fractures Disease 498481 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481 LRP5-related primary osteoporosis Malformation syndrome 536467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype 536532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 Classical-like Ehlers-Danlos syndrome type 2 Disease 93447 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447 Primary bone dysplasia with defective bone mineralization Category 1416 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416 Familial calcium pyrophosphate deposition Disease 557003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 Oculoskeletodental syndrome Disease 436 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 Hypophosphatasia Disease 247623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 Perinatal lethal hypophosphatasia Clinical subtype 247638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 Prenatal benign hypophosphatasia Clinical subtype 247651 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 Infantile hypophosphatasia Clinical subtype 247667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 Childhood-onset hypophosphatasia Clinical subtype 247676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 Adult hypophosphatasia Clinical subtype 247685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 Odontohypophosphatasia Clinical subtype 417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 Neonatal severe primary hyperparathyroidism Disease 405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 Familial hypocalciuric hypercalcemia Disease 93372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 Familial hypocalciuric hypercalcemia type 1 Etiological subtype 101049 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 Familial hypocalciuric hypercalcemia type 2 Etiological subtype 101050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 Familial hypocalciuric hypercalcemia type 3 Etiological subtype 50811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 Lipodystrophy-intellectual disability-deafness syndrome Disease 73230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 Ossification anomalies-psychomotor developmental delay syndrome Disease 79106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 Eiken syndrome Malformation syndrome 289098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098 Disorders of vitamin D metabolism Category 437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 Hypophosphatemic rickets Clinical group 213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 Cystinosis Disease 411629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 Infantile nephropathic cystinosis Clinical subtype 411634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 Juvenile nephropathic cystinosis Clinical subtype 411641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 Ocular cystinosis Clinical subtype 244305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis Disease 1652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 Dent disease Disease 93623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 Dent disease type 2 Clinical subtype 93622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 Dent disease type 1 Clinical subtype 89936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 X-linked hypophosphatemia Disease 89937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 Autosomal dominant hypophosphatemic rickets Disease 157215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 Hereditary hypophosphatemic rickets with hypercalciuria Disease 289176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 Autosomal recessive hypophosphatemic rickets Disease 289103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103 Hypocalcemic rickets Clinical group 93160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 Hypocalcemic vitamin D-resistant rickets Disease 289157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 Hypocalcemic vitamin D-dependent rickets Disease 93449 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93449 Primary osteolysis Category 647667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 Mandibuloacral dysplasia associated to MTX2 Malformation syndrome 498474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474 Hyaline fibromatosis syndrome Disease 2028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 Juvenile hyaline fibromatosis Clinical subtype 2176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 Infantile systemic hyalinosis Clinical subtype 955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 Hajdu-Cheney syndrome Malformation syndrome 1952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome Malformation syndrome 2457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 Mandibuloacral dysplasia Malformation syndrome 90153 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 Mandibuloacral dysplasia with type A lipodystrophy Clinical subtype 90154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 Mandibuloacral dysplasia with type B lipodystrophy Clinical subtype 2774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 Multicentric carpo-tarsal osteolysis with or without nephropathy Malformation syndrome 2776 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 Autosomal recessive distal osteolysis syndrome Malformation syndrome 740 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 Hutchinson-Gilford progeria syndrome Disease 50809 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809 Talo-patello-scaphoid osteolysis Malformation syndrome 85195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195 Familial expansile osteolysis Disease 280576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 Nestor-Guillermo progeria syndrome Malformation syndrome 352636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636 Phalangeal microgeodic syndrome Disease 371428 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428 Multicentric osteolysis-nodulosis-arthropathy spectrum Disease 93450 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93450 Primary bone dysplasia with disorganized development of skeletal components Category 73 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 Gorham-Stout disease Malformation syndrome 636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Neurofibromatosis type 1 Disease 97685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 17q11 microdeletion syndrome Clinical subtype 363700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Etiological subtype 337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 Fibrodysplasia ossificans progressiva Disease 595216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595216 Fibrous dysplasia/McCune-Albright syndrome Clinical group 562 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 McCune-Albright syndrome Disease 249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249 Fibrous dysplasia of bone Malformation syndrome 93276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276 Polyostotic fibrous dysplasia Clinical subtype 93277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277 Monostotic fibrous dysplasia Clinical subtype 184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 Cherubism Malformation syndrome 1822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822 Dysplasia epiphysealis hemimelica Malformation syndrome 1962 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962 Exostoses-anetodermia-brachydactyly type E syndrome Malformation syndrome 2770 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 Nasu-Hakola disease Malformation syndrome 2762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 Progressive osseous heteroplasia Malformation syndrome 296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 Ollier disease Disease 2499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499 Metachondromatosis Malformation syndrome 2645 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 Osteoglosphonic dysplasia Malformation syndrome 2767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767 Carpotarsal osteochondromatosis Malformation syndrome 2867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867 Short stature, Brussels type Malformation syndrome 3019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 Ramon syndrome Malformation syndrome 3408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408 Upington disease Malformation syndrome 321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 Multiple osteochondromas Disease 53697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 Gnathodiaphyseal dysplasia Malformation syndrome 57782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782 Mazabraud syndrome Malformation syndrome 85197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197 Genochondromatosis type 1 Disease 85198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198 Dysspondyloenchondromatosis Malformation syndrome 93398 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398 Genochondromatosis type 2 Disease 99646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Disease 163634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 Maffucci syndrome Disease 488265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 Osteofibrous dysplasia Disease 93451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93451 Cleidocranial dysplasia and isolated cranial ossification defect Category 251290 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290 Parietal foramina with clavicular hypoplasia Malformation syndrome 1452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 Cleidocranial dysplasia Malformation syndrome 3034 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034 Delayed membranous cranial ossification Malformation syndrome 3472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 Yunis-Varon syndrome Malformation syndrome 60015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 Enlarged parietal foramina Malformation syndrome 85199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 Craniosynostosis-anal anomalies-porokeratosis syndrome Malformation syndrome 93465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93465 Lethal chondrodysplasia Category 1842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842 Bone dysplasia, lethal Holmgren type Malformation syndrome 2347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347 Lethal Kniest-like dysplasia Malformation syndrome 3003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003 Pyknoachondrogenesis Malformation syndrome 1423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423 Lethal recessive chondrodysplasia Malformation syndrome 364531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Category 337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 Fibrodysplasia ossificans progressiva Disease 2762 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 Progressive osseous heteroplasia Malformation syndrome 364559 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364559 Dysostosis Category 1531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531 Craniosynostosis Category 139390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390 Non-syndromic craniosynostosis Clinical group 620096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620096 Non-syndromic unisutural craniosynostosis Clinical group 620102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102 Non-syndromic unicoronal craniosynostosis Morphological anomaly 620113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113 Non-syndromic unilambdoid craniosynostosis Morphological anomaly 620139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139 Non-syndromic unifrontosphenoidal craniosynostosis Morphological anomaly 620146 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146 Non-syndromic unisquamosal craniosynostosis Morphological anomaly 3366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 Non-syndromic metopic craniosynostosis Morphological anomaly 35093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 Non-syndromic sagittal craniosynostosis Morphological anomaly 620152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620152 Non-syndromic multisutural craniosynostosis Clinical group 620158 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158 Non-syndromic non-specific multisutural craniosynostosis Morphological anomaly 620178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178 Non-syndromic bilambdoid craniosynostosis Morphological anomaly 620186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186 Non-syndromic unicoronal and sagittal craniosynostosis Morphological anomaly 620192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192 Non-syndromic metopic and sagittal craniosynostosis Morphological anomaly 620198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198 Non-syndromic bicoronal and metopic craniosynostosis Morphological anomaly 620205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205 Non-syndromic bicoronal and sagittal craniosynostosis Morphological anomaly 620212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212 Non-syndromic pansynostosis Morphological anomaly 35099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 Non-syndromic bicoronal craniosynostosis Morphological anomaly 1516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516 Non-syndromic bilambdoid and sagittal craniosynostosis Malformation syndrome 139393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393 Syndromic craniosynostosis Category 207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 Crouzon syndrome Malformation syndrome 1308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 C syndrome Malformation syndrome 87 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 Apert syndrome Malformation syndrome 83 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 Antley-Bixler syndrome Malformation syndrome 63269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Clinical subtype 596008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis Clinical subtype 1225 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 Baller-Gerold syndrome Malformation syndrome 1515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 Cranioectodermal dysplasia Malformation syndrome 1527 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 Craniosynostosis, Philadelphia type Malformation syndrome 1528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 Craniotelencephalic dysplasia Malformation syndrome 1540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 Jackson-Weiss syndrome Malformation syndrome 1553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 Curry-Jones syndrome Malformation syndrome 1555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Malformation syndrome 2145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145 Craniosynostosis, Herrmann-Opitz type Malformation syndrome 2163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 Holoprosencephaly-craniosynostosis syndrome Malformation syndrome 2409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 Lowry-MacLean syndrome Malformation syndrome 2462 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 Shprintzen-Goldberg syndrome Malformation syndrome 2872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 Cardiocranial syndrome, Pfeiffer type Malformation syndrome 3134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 SCARF syndrome Malformation syndrome 3365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365 Trigonocephaly-broad thumbs syndrome Malformation syndrome 3369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 Trigonocephaly-short stature-developmental delay syndrome Malformation syndrome 2898 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 X-linked intellectual disability-plagiocephaly syndrome Malformation syndrome 1541 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 Craniosynostosis, Boston type Malformation syndrome 1524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524 Craniomicromelic syndrome Malformation syndrome 52054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054 Craniosynostosis-intracranial calcifications syndrome Malformation syndrome 53271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 Muenke syndrome Malformation syndrome 247651 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 Infantile hypophosphatasia Clinical subtype 85199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 Craniosynostosis-anal anomalies-porokeratosis syndrome Malformation syndrome 93262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 Crouzon syndrome-acanthosis nigricans syndrome Malformation syndrome 93267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267 Cloverleaf skull-multiple congenital anomalies syndrome Malformation syndrome 247638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 Prenatal benign hypophosphatasia Clinical subtype 100978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Malformation syndrome 169163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163 Familial scaphocephaly syndrome Category 1538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Malformation syndrome 168624 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 Familial scaphocephaly syndrome, McGillivray type Malformation syndrome 171839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Malformation syndrome 178377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 Osteosclerosis-developmental delay-craniosynostosis syndrome Malformation syndrome 221054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054 Acrocephalopolydactyly Malformation syndrome 284149 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 Craniosynostosis-dental anomalies Malformation syndrome 293925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 Lethal occipital encephalocele-skeletal dysplasia syndrome Malformation syndrome 247667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 Childhood-onset hypophosphatasia Clinical subtype 648 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Noonan syndrome Malformation syndrome 79213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 Mucopolysaccharidosis Category 580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 Mucopolysaccharidosis type 2 Disease 217085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 Mucopolysaccharidosis type 2, severe form Clinical subtype 217093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 Mucopolysaccharidosis type 2, attenuated form Clinical subtype 581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 Mucopolysaccharidosis type 3 Disease 79269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 Sanfilippo syndrome type A Etiological subtype 79270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 Sanfilippo syndrome type B Etiological subtype 79271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 Sanfilippo syndrome type C Etiological subtype 79272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 Sanfilippo syndrome type D Etiological subtype 662216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 Mucopolysaccharidosis type 10 Disease 582 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 Mucopolysaccharidosis type 4 Disease 309310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 Mucopolysaccharidosis type 4B Clinical subtype 309297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 Mucopolysaccharidosis type 4A Clinical subtype 583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 Mucopolysaccharidosis type 6 Disease 276212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 Mucopolysaccharidosis type 6, rapidly progressing Clinical subtype 276223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 Mucopolysaccharidosis type 6, slowly progressing Clinical subtype 584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 Mucopolysaccharidosis type 7 Disease 579 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 Mucopolysaccharidosis type 1 Disease 93473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 Hurler syndrome Clinical subtype 93474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 Scheie syndrome Clinical subtype 93476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 Hurler-Scheie syndrome Clinical subtype 67041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 Hyaluronidase deficiency Disease 2645 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 Osteoglosphonic dysplasia Malformation syndrome 904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 Williams syndrome Malformation syndrome 3270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 Radioulnar synostosis-developmental delay-hypotonia syndrome Malformation syndrome 369837 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome Malformation syndrome 313855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 FGFR2-related bent bone dysplasia Disease 1520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 Craniofrontonasal dysplasia Malformation syndrome 293843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 3MC syndrome Malformation syndrome 2655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 Thanatophoric dysplasia Disease 1860 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 Thanatophoric dysplasia type 1 Clinical subtype 93274 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 Thanatophoric dysplasia type 2 Clinical subtype 763 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 Pycnodysostosis Disease 1465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 Coffin-Siris syndrome Malformation syndrome 36 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 Acrocallosal syndrome Malformation syndrome 235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 Dubowitz syndrome Malformation syndrome 97297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 Bohring-Opitz syndrome Malformation syndrome 647681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome Malformation syndrome 565858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome Malformation syndrome 672979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome Malformation syndrome 672985 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome Malformation syndrome 2332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 KBG syndrome Malformation syndrome 96169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 Koolen-De Vries syndrome Malformation syndrome 363958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 17q21.31 microdeletion syndrome Etiological subtype 363965 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 Koolen-De Vries syndrome due to a point mutation Etiological subtype 1906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 Fetal valproate spectrum disorder Malformation syndrome 710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 Pfeiffer syndrome Malformation syndrome 93258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 Pfeiffer syndrome type 1 Clinical subtype 93259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 Pfeiffer syndrome type 2 Clinical subtype 93260 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 Pfeiffer syndrome type 3 Clinical subtype 794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 Saethre-Chotzen syndrome Malformation syndrome 65759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 Carpenter syndrome Malformation syndrome 66630 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630 Congenital pseudoarthrosis of the clavicle Disease 93453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93453 Dysostosis with predominant craniofacial involvement Category 1517 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 Cantú syndrome Malformation syndrome 1794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 Oculomaxillofacial dysostosis Malformation syndrome 250 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250 Frontonasal dysplasia Clinical group 1519 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 SPECC1L-related hypertelorism syndrome Malformation syndrome 1520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 Craniofrontonasal dysplasia Malformation syndrome 1521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521 Craniofrontonasal dysplasia-Poland anomaly syndrome Malformation syndrome 1993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 Pai syndrome Malformation syndrome 1791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 Frontofacionasal dysplasia Malformation syndrome 1827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 Acromelic frontonasal dysplasia Malformation syndrome 228390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome Malformation syndrome 306542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Malformation syndrome 391474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 Frontorhiny Malformation syndrome 398156 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156 Oculoauriculofrontonasal syndrome Malformation syndrome 488437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437 SIX2-related frontonasal dysplasia Malformation syndrome 521308 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome Malformation syndrome 157832 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 Craniorhiny Malformation syndrome 2549 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549 Oculoauriculovertebral spectrum with radial defects Malformation syndrome 2769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769 Familial osteodysplasia, Anderson type Malformation syndrome 363705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 Craniofaciofrontodigital syndrome Disease 3291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291 Teebi-Shaltout syndrome Malformation syndrome 140997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 Orofaciodigital syndrome Clinical group 2750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Orofaciodigital syndrome type 1 Malformation syndrome 2751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 Orofaciodigital syndrome type 2 Malformation syndrome 2753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 Orofaciodigital syndrome type 4 Malformation syndrome 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 2755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 Orofaciodigital syndrome type 8 Malformation syndrome 2919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 Orofaciodigital syndrome type 5 Malformation syndrome 141000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 Orofaciodigital syndrome type 11 Malformation syndrome 141007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 Orofaciodigital syndrome type 9 Malformation syndrome 434179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 Orofaciodigital syndrome type 14 Malformation syndrome 508501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 Orofaciodigital syndrome type 18 Malformation syndrome 459061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome Malformation syndrome 155896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896 Otomandibular dysplasia Category 137888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 Auriculocondylar syndrome Malformation syndrome 141132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 Oculo-auriculo-vertebral spectrum Malformation syndrome 155899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899 Mandibulofacial dysostosis Clinical group 861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 Treacher-Collins syndrome Malformation syndrome 950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 Acrodysostosis Malformation syndrome 357158 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Disease 443995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 Mandibulofacial dysostosis with alopecia Malformation syndrome 156202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202 Otomandibular dysplasia associated with monogenic syndromes Category 107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 BOR syndrome Malformation syndrome 1296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 Lambert syndrome Malformation syndrome 314555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome Malformation syndrome 3262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262 Dobrow syndrome Malformation syndrome 93454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93454 Dysostosis with predominant vertebral and costal involvement Category 2311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 Autosomal recessive spondylocostal dysostosis Malformation syndrome 1552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 Currarino syndrome Malformation syndrome 1393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 Cerebrocostomandibular syndrome Malformation syndrome 1394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 Cerebrofaciothoracic dysplasia Malformation syndrome 2206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206 Ankylosing vertebral hyperostosis with tylosis Malformation syndrome 2482 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482 Melhem-Fahl syndrome Malformation syndrome 2759 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759 Imperforate oropharynx-costovertebral anomalies syndrome Malformation syndrome 2840 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome Malformation syndrome 1797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797 Autosomal dominant spondylocostal dysostosis Malformation syndrome 3456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456 Wildervanck syndrome Malformation syndrome 2062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 Progressive non-infectious anterior vertebral fusion Malformation syndrome 2345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 Isolated Klippel-Feil syndrome Malformation syndrome 66637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 Diaphanospondylodysostosis Malformation syndrome 85164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome Disease 2744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 Horizontal gaze palsy with progressive scoliosis Disease 329191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 Tall stature-long halluces-multiple extra-epiphyses syndrome Disease 447974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Malformation syndrome 505248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Malformation syndrome 453499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Malformation syndrome 352665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion Etiological subtype 453504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation Etiological subtype 93455 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93455 Patellar dysostosis Category 2614 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 Nail-patella syndrome Malformation syndrome 1509 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509 Coxopodopatellar syndrome Disease 2554 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 Ear-patella-short stature syndrome Malformation syndrome 86789 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789 Isolated patella aplasia/hypoplasia Morphological anomaly 293150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 Familial clubfoot due to PITX1 point mutation Etiological subtype 597749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 KAT6B-related multiple congenital anomalies syndrome Clinical group 3047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 Blepharophimosis-intellectual disability syndrome, SBBYS type Malformation syndrome 85201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 Genitopatellar syndrome Malformation syndrome 597746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome Malformation syndrome 364568 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364568 Dysostosis with limb anomaly as a major feature Category 488434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 Camptodactyly syndrome, Guadalajara type 3 Malformation syndrome 3292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292 Tel Hashomer camptodactyly syndrome Malformation syndrome 498477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498477 Ectrodactyly with and without other manifestations Category 1896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 EEC syndrome Malformation syndrome 1897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 EEM syndrome Malformation syndrome 69085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 Limb-mammary syndrome Malformation syndrome 978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 ADULT syndrome Malformation syndrome 3329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 Tibial aplasia-ectrodactyly syndrome Malformation syndrome 1118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 Fibular aplasia-ectrodactyly syndrome Malformation syndrome 1892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 Ectrodactyly-polydactyly syndrome Malformation syndrome 1406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 Charlie M syndrome Malformation syndrome 1986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 Gollop-Wolfgang complex Malformation syndrome 2117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 Hartsfield syndrome Malformation syndrome 2439 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 Patterson-Stevenson-Fontaine syndrome Malformation syndrome 2440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440 Isolated split hand-split foot malformation Malformation syndrome 69028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028 Dysostosis with brachydactyly Category 498451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498451 Dysostosis with brachydactyly without extraskeletal manifestations Category 1570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570 Symbrachydactyly of hands and feet Malformation syndrome 633211 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211 Preaxial digit brachydactyly-webbed fingers Malformation syndrome 93388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 Brachydactyly type A1 Malformation syndrome 93396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396 Brachydactyly type A2 Malformation syndrome 93394 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394 Brachydactyly type A4 Malformation syndrome 93397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397 Brachydactyly type A7 Malformation syndrome 498602 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602 Sugarman brachydactyly Morphological anomaly 1487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 Cooks syndrome Malformation syndrome 2565 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565 Mononen-Karnes-Senac syndrome Malformation syndrome 85169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 Familial digital arthropathy-brachydactyly Malformation syndrome 93382 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 Brachydactyly type A6 Malformation syndrome 93383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383 Brachydactyly type B Malformation syndrome 140908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908 Brachydactyly type B2 Clinical subtype 572385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385 Brachydactyly type B1 Clinical subtype 93384 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384 Brachydactyly type C Malformation syndrome 93387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387 Brachydactyly type E Malformation syndrome 1275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 Brachydactyly-elbow wrist dysplasia syndrome Malformation syndrome 1319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319 Camptobrachydactyly Malformation syndrome 498454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498454 Dysostosis with brachydactyly with extraskeletal manifestations Category 589608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Disease 166035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 Brachydactyly-short stature-retinitis pigmentosa syndrome Malformation syndrome 238744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 Mammary-digital-nail syndrome Malformation syndrome 1001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 2q37 microdeletion syndrome Malformation syndrome 247262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 Hyperphosphatasia-intellectual disability syndrome Disease 1276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 Brachydactyly-arterial hypertension syndrome Malformation syndrome 1305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 Feingold syndrome Malformation syndrome 391646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 Feingold syndrome type 2 Clinical subtype 391641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 Feingold syndrome type 1 Clinical subtype 2438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 Hand-foot-genital syndrome Malformation syndrome 783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 Rubinstein-Taybi syndrome Malformation syndrome 353277 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 Rubinstein-Taybi syndrome due to CREBBP mutations Etiological subtype 353281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Etiological subtype 353284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Etiological subtype 363417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 Temtamy preaxial brachydactyly syndrome Malformation syndrome 1278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 Brachydactyly-preaxial hallux varus syndrome Malformation syndrome 1465 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 Coffin-Siris syndrome Malformation syndrome 974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 Adams-Oliver syndrome Malformation syndrome 1078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 Thumb stiffness-brachydactyly-intellectual disability syndrome Malformation syndrome 1292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 Brachymorphism-onychodysplasia-dysphalangism syndrome Malformation syndrome 1295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 Brachytelephalangy-dysmorphism-Kallmann syndrome Malformation syndrome 2911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911 Poland syndrome Malformation syndrome 1858 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 Skeletal dysplasia-epilepsy-short stature syndrome Malformation syndrome 2946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 Brachydactyly-long thumb syndrome Malformation syndrome 2956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 Acrodysplasia scoliosis Malformation syndrome 3433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome Malformation syndrome 52056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 Ulnar/fibula ray defect-brachydactyly syndrome Malformation syndrome 93457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457 Non-syndromic limb reduction defect Category 498457 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498457 Non-syndromic longitudinal limb defect Category 2130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130 Non-syndromic hemimelia Clinical group 93320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320 Isolated ulnar hemimelia Morphological anomaly 93321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 Isolated radial hemimelia Morphological anomaly 93322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 Isolated tibial hemimelia Morphological anomaly 93323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323 Isolated fibular hemimelia Morphological anomaly 294988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988 Isolated hypoplasia of thumb Morphological anomaly 498461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498461 Non-syndromic terminal transverse limb defect Category 931 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 Isolated acheiropodia Morphological anomaly 973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral Morphological anomaly 294925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925 Non-syndromic amelia Clinical group 294967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967 Isolated amelia of upper limb Morphological anomaly 294969 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969 Isolated amelia of lower limb Morphological anomaly 294971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971 Isolated tetra-amelia Morphological anomaly 498491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 Non-syndromic complete hemimelia Category 294979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 Isolated absence of both forearm and hand Morphological anomaly 294981 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981 Isolated absence of both lower leg and foot Morphological anomaly 294983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983 Isolated acheiria Morphological anomaly 294986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986 Isolated apodia Morphological anomaly 294927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927 Non-syndromic intercalary limb defects Clinical group 294975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975 Isolated absence of upper arm and forearm with hand present Morphological anomaly 294977 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977 Isolated absence of thigh and lower leg with foot present Morphological anomaly 1987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987 Isolated femoral agenesis/hypoplasia Morphological anomaly 294973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973 Isolated humeral agenesis/hypoplasia Morphological anomaly 633228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228 Isolated proximal femoral focal deficiency Morphological anomaly 667589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667589 Isolated congenital femoral bifurcation Morphological anomaly 93458 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy Category 2913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913 Non-syndromic polydactyly Category 498464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498464 Non-syndromic preaxial polydactyly Category 93336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 Polydactyly of a triphalangeal thumb Morphological anomaly 93337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337 Polydactyly of an index finger Morphological anomaly 93338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 Polysyndactyly Morphological anomaly 93339 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 Polydactyly of a biphalangeal thumb and/or hallux Morphological anomaly 498467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498467 Non-syndromic postaxial polydactyly Category 93334 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 Postaxial polydactyly type A Morphological anomaly 93335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 Postaxial polydactyly type B Morphological anomaly 498470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498470 Non-syndromic complex polydactyly Category 295004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 Central polydactyly Morphological anomaly 498494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 Mirror-image polydactyly Morphological anomaly 90025 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025 Non-syndromic syndactyly Category 2498 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 Syndactyly type 8 Morphological anomaly 93402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402 Syndactyly type 1 Morphological anomaly 295187 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187 Zygodactyly type 1 Clinical subtype 295189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189 Zygodactyly type 2 Clinical subtype 295191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 Zygodactyly type 3 Clinical subtype 295193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193 Zygodactyly type 4 Clinical subtype 93403 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403 Syndactyly type 2 Morphological anomaly 295195 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 Synpolydactyly type 1 Clinical subtype 295197 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 Synpolydactyly type 2 Clinical subtype 295199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199 Synpolydactyly type 3 Clinical subtype 93404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404 Syndactyly type 3 Morphological anomaly 93405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405 Syndactyly type 4 Morphological anomaly 93406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406 Syndactyly type 5 Morphological anomaly 157801 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 Mesoaxial synostotic syndactyly with phalangeal reduction Morphological anomaly 295012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012 Syndactyly type 6 Morphological anomaly 295002 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002 Isolated hyperphalangy Morphological anomaly 93459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459 Syndrome with synostosis or other joint formation defect Category 75496 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Clinical subtype 1275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 Brachydactyly-elbow wrist dysplasia syndrome Malformation syndrome 1228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228 Banki syndrome Malformation syndrome 1412 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 Tarsal-carpal coalition syndrome Malformation syndrome 2760 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 OSLAM syndrome Malformation syndrome 2900 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900 Leri pleonosteosis Malformation syndrome 3237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 Multiple synostoses syndrome Malformation syndrome 3246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 Symphalangism with multiple anomalies of hands and feet Malformation syndrome 3250 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 Proximal symphalangism Malformation syndrome 3268 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268 Radioulnar synostosis-microcephaly-scoliosis syndrome Malformation syndrome 3270 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 Radioulnar synostosis-developmental delay-hypotonia syndrome Malformation syndrome 71289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Malformation syndrome 3466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 WT limb-blood syndrome Disease 157808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808 Isolated pseudoarthrosis of the limbs Morphological anomaly 295018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018 Congenital pseudoarthrosis of the tibia Clinical subtype 295020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020 Congenital pseudoarthrosis of the femur Clinical subtype 295022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022 Congenital pseudoarthrosis of the fibula Clinical subtype 295024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024 Congenital pseudoarthrosis of the radius Clinical subtype 295026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026 Congenital pseudoarthrosis of the ulna Clinical subtype 199315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315 Familial clubfoot with or without associated lower limb anomalies Malformation syndrome 238578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 Familial clubfoot due to 17q23.1q23.2 microduplication Etiological subtype 293144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 Familial clubfoot due to 5q31 microdeletion Etiological subtype 293150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 Familial clubfoot due to PITX1 point mutation Etiological subtype 228184 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184 Heart-hand syndrome Category 392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 Holt-Oram syndrome Malformation syndrome 1342 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 Heart-hand syndrome type 3 Malformation syndrome 1350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 Heart-hand syndrome type 2 Malformation syndrome 2946 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 Brachydactyly-long thumb syndrome Malformation syndrome 168796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 Heart-hand syndrome, Slovenian type Malformation syndrome 228190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Malformation syndrome 319340 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 Carney complex-trismus-pseudocamptodactyly syndrome Disease 294949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949 Non-syndromic joint formation defects Category 3248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248 Isolated distal symphalangism Morphological anomaly 3265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265 Isolated humero-radial synostosis Morphological anomaly 3266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266 Isolated humero-radio-ulnar synostosis Morphological anomaly 3269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269 Isolated radio-ulnar synostosis Morphological anomaly 94056 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056 Isolated humero-ulnar synostosis Morphological anomaly 295028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028 Isolated tibio-fibular synostosis Morphological anomaly 294955 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955 Syndrome with limb reduction defects Category 488232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 Split-foot malformation-mesoaxial polydactyly syndrome Malformation syndrome 496693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Malformation syndrome 3320 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 Thrombocytopenia-absent radius syndrome Malformation syndrome 84 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 Fanconi anemia Malformation syndrome 3103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 Roberts syndrome Malformation syndrome 974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 Adams-Oliver syndrome Malformation syndrome 978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 ADULT syndrome Malformation syndrome 988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Malformation syndrome 989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 Hypoglossia-hypodactyly syndrome Malformation syndrome 1071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Malformation syndrome 1074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome Clinical subtype 1072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome Clinical subtype 1112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Malformation syndrome 1113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 Aphalangy-syndactyly-microcephaly syndrome Malformation syndrome 1972 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 Lethal faciocardiomelic dysplasia Malformation syndrome 1986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 Gollop-Wolfgang complex Malformation syndrome 1988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 Femoral-facial syndrome Malformation syndrome 2063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 Splenogonadal fusion-limb defects-micrognathia syndrome Malformation syndrome 2249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 Ulna hypoplasia-intellectual disability syndrome Malformation syndrome 2307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307 IVIC syndrome Malformation syndrome 2310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310 Absence deformity of leg-cataract syndrome Malformation syndrome 2329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329 Karsch-Neugebauer syndrome Malformation syndrome 2564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564 Tetramelic monodactyly Malformation syndrome 2639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 Fibular aplasia-complex brachydactyly syndrome Malformation syndrome 2730 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730 Postaxial tetramelic oligodactyly Malformation syndrome 2839 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839 Pelvis-shoulder dysplasia Malformation syndrome 2854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 Fuhrmann syndrome Malformation syndrome 2879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879 Phocomelia, Schinzel type Malformation syndrome 3015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 Radio-renal syndrome Malformation syndrome 3016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016 Absent radius-anogenital anomalies syndrome Malformation syndrome 3021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 RAPADILINO syndrome Malformation syndrome 3138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 Ulnar-mammary syndrome Malformation syndrome 3301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 Tetraamelia-multiple malformations syndrome Malformation syndrome 3312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 Thalidomide embryopathy Malformation syndrome 3328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 Absent tibia-polydactyly-arachnoid cyst syndrome Malformation syndrome 3329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 Tibial aplasia-ectrodactyly syndrome Malformation syndrome 3383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383 Humerus trochlea aplasia Malformation syndrome 71271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 Split hand-split foot-deafness syndrome Malformation syndrome 93293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 Okihiro syndrome Malformation syndrome 261638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 Okihiro syndrome due to 20q13 microdeletion Etiological subtype 261647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 Okihiro syndrome due to a point mutation Etiological subtype 93333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 Pelviscapular dysplasia Malformation syndrome 238744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 Mammary-digital-nail syndrome Malformation syndrome 329319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 Thrombocythemia with distal limb defects Disease 392 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 Holt-Oram syndrome Malformation syndrome 199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 Cornelia de Lange syndrome Malformation syndrome 1891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 Intellectual disability-spasticity-ectrodactyly syndrome Malformation syndrome 2492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 FATCO syndrome Malformation syndrome 508542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome Disease 221139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 Combined immunodeficiency with facio-oculo-skeletal anomalies Disease 1326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 Camptodactyly syndrome, Guadalajara type 2 Malformation syndrome 1354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 Heart defects-limb shortening syndrome Malformation syndrome 294957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957 Dysostosis with combined reduction defects of upper and lower limbs Category 1118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 Fibular aplasia-ectrodactyly syndrome Malformation syndrome 1121 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121 Radial deficiency-tibial hypoplasia syndrome Malformation syndrome 1122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122 Ulnar hypoplasia-split foot syndrome Malformation syndrome 1986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 Gollop-Wolfgang complex Malformation syndrome 2019 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019 Femur-fibula-ulna complex Malformation syndrome 3329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 Tibial aplasia-ectrodactyly syndrome Malformation syndrome 294959 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Category 658805 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805 Greig cephalopolysyndactyly-contiguous gene syndrome Malformation syndrome 567502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome Disease 85203 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203 Acropectoral syndrome Malformation syndrome 93409 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409 Brachydactyly-syndactyly, Zhao type Malformation syndrome 140952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome Malformation syndrome 140997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 Orofaciodigital syndrome Clinical group 2750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Orofaciodigital syndrome type 1 Malformation syndrome 2751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 Orofaciodigital syndrome type 2 Malformation syndrome 2753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 Orofaciodigital syndrome type 4 Malformation syndrome 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 2755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 Orofaciodigital syndrome type 8 Malformation syndrome 2919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 Orofaciodigital syndrome type 5 Malformation syndrome 141000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 Orofaciodigital syndrome type 11 Malformation syndrome 141007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 Orofaciodigital syndrome type 9 Malformation syndrome 434179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 Orofaciodigital syndrome type 14 Malformation syndrome 508501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 Orofaciodigital syndrome type 18 Malformation syndrome 357332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome Malformation syndrome 369979 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Malformation syndrome 420584 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Malformation syndrome 857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 Townes-Brocks syndrome Malformation syndrome 564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 Meckel syndrome Malformation syndrome 36 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 Acrocallosal syndrome Malformation syndrome 957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957 Acropectorovertebral dysplasia Malformation syndrome 1003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 Scalp defects-postaxial polydactyly syndrome Malformation syndrome 1113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 Aphalangy-syndactyly-microcephaly syndrome Malformation syndrome 1388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 Catel-Manzke syndrome Malformation syndrome 1527 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 Craniosynostosis, Philadelphia type Malformation syndrome 1566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 Dandy-Walker malformation-postaxial polydactyly syndrome Malformation syndrome 1757 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757 Fibular dimelia-diplopodia syndrome Malformation syndrome 1892 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 Ectrodactyly-polydactyly syndrome Malformation syndrome 1986 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 Gollop-Wolfgang complex Malformation syndrome 380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 Greig cephalopolysyndactyly syndrome Malformation syndrome 2110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110 Hallux varus-preaxial polysyndactyly syndrome Malformation syndrome 672 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 Pallister-Hall syndrome Malformation syndrome 2363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 Lacrimoauriculodentodigital syndrome Malformation syndrome 2378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378 Laurin-Sandrow syndrome Malformation syndrome 2854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 Fuhrmann syndrome Malformation syndrome 2917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917 Polydactyly-myopia syndrome Malformation syndrome 2920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 Oliver syndrome Malformation syndrome 2935 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935 Crossed polysyndactyly Malformation syndrome 2947 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947 Triphalangeal thumbs-brachyectrodactyly syndrome Malformation syndrome 2957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 Guttmacher syndrome Malformation syndrome 3004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome Malformation syndrome 3168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168 Sillence syndrome Malformation syndrome 3172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172 Eyebrow duplication-syndactyly syndrome Malformation syndrome 3246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 Symphalangism with multiple anomalies of hands and feet Malformation syndrome 3255 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 Filippi syndrome Malformation syndrome 3258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258 Cenani-Lenz syndrome Malformation syndrome 3328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 Absent tibia-polydactyly-arachnoid cyst syndrome Malformation syndrome 3259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259 Syndactyly-polydactyly-ear lobe syndrome Malformation syndrome 818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 Smith-Lemli-Opitz syndrome Malformation syndrome 71271 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 Split hand-split foot-deafness syndrome Malformation syndrome 2492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 FATCO syndrome Malformation syndrome 476119 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome Malformation syndrome 488232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 Split-foot malformation-mesoaxial polydactyly syndrome Malformation syndrome 364198 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198 Bipartite talus Morphological anomaly 364571 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364571 Dysostosis with limb and face anomalies as a major feature Category 2749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749 Oromandibular-limb hypogenesis syndrome Clinical group 1406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 Charlie M syndrome Malformation syndrome 989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 Hypoglossia-hypodactyly syndrome Malformation syndrome 141163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163 Glossopalatine ankylosis Malformation syndrome 199332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 Endocrine-cerebro-osteodysplasia syndrome Malformation syndrome 364574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364574 Acrofacial dysostosis Clinical group 245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 Nager syndrome Malformation syndrome 246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 Postaxial acrofacial dysostosis Malformation syndrome 949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949 Acrocraniofacial dysostosis Malformation syndrome 952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 Acrofacial dysostosis, Weyers type Malformation syndrome 1131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 X-linked mandibulofacial dysostosis Malformation syndrome 1520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 Craniofrontonasal dysplasia Malformation syndrome 1784 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784 Acrofrontofacionasal dysostosis Malformation syndrome 1786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 Acrofacial dysostosis, Catania type Malformation syndrome 1788 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 Acrofacial dysostosis, Rodríguez type Malformation syndrome 2439 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 Patterson-Stevenson-Fontaine syndrome Malformation syndrome 1827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 Acromelic frontonasal dysplasia Malformation syndrome 1787 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787 Acrofacial dysostosis, Palagonia type Malformation syndrome 64542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542 Acrofacial dysostosis, Kennedy-Teebi type Malformation syndrome 79113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 Mandibulofacial dysostosis-microcephaly syndrome Malformation syndrome 3102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 Richieri Costa-Pereira syndrome Malformation syndrome 2793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 Otoonychoperoneal syndrome Malformation syndrome 3023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023 External auditory canal atresia-vertical talus-hypertelorism syndrome Malformation syndrome 1321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome Malformation syndrome 1323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 Camptodactyly-joint contractures-facial skeletal defects syndrome Malformation syndrome 399158 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399158 Osteonecrosis Category 566943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566943 Mueller-Weiss syndrome Disease 399319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399319 Osteochondrosis Category 2380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380 Legg-Calvé-Perthes disease Disease 3314 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314 Thiemann disease, familial form Disease 57196 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196 Medial condensing osteitis of the clavicle Disease 97332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97332 Kienbock disease Disease 97335 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335 Osgood-Schlatter disease Disease 97336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336 Panner disease Disease 97337 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337 Sinding-Larsen-Johansson disease Disease 564003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564003 Osteochondrosis of the metatarsal bone Disease 563991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563991 Osteochondrosis of the tarsal bone Disease 399329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399329 Epiphysiolysis of the hip Disease 444316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444316 Idiopathic phalangeal acro-osteolysis Disease 2764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764 Osteochondritis dissecans Disease 251262 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262 Familial osteochondritis dissecans Disease 399164 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399164 Avascular necrosis Category 399169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399169 Secondary avascular necrosis Category 399175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399175 Traumatic avascular necrosis Disease 399180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180 Secondary non-traumatic avascular necrosis Disease 399185 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399185 Rare hereditary disease with avascular necrosis Category 232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 Sickle cell anemia Disease 77259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 Gaucher disease type 1 Clinical subtype 77261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 Gaucher disease type 3 Clinical subtype 217454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454 Rare hereditary thrombophilia Clinical group 743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743 Severe hereditary thrombophilia due to congenital protein S deficiency Disease 745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 Severe hereditary thrombophilia due to congenital protein C deficiency Disease 82 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 Hereditary thrombophilia due to congenital antithrombin deficiency Disease 217467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Disease 399293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399293 Osteonecrosis of the jaw Disease 399302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399302 Primary avascular necrosis Clinical group 86820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820 Familial avascular necrosis of femoral head Disease 399307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399307 Idiopathic avascular necrosis Disease 521127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521127 Osteoradionecrosis of the mandible Disease 645822 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645822 Primary bone and joint tuberculosis Disease 647823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647823 Idiopathic pregnancy-associated osteoporosis Disease