Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162967 Orphanet classification of rare otorhinolaryngological diseases 98036 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98036 Rare otorhinolaryngologic disease Category 504476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Disease 922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=922 Familial nasal acilia Disease 1467 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1467 Cogan syndrome Disease 68361 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68361 Rare deafness Category 90642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90642 Rare syndromic genetic deafness Category 529574 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 Duane retraction syndrome with congenital deafness Malformation syndrome 508476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome Malformation syndrome 521438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 Congenital vertebral-cardiac-renal anomalies syndrome Malformation syndrome 521445 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome Malformation syndrome 456298 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 1p35.2 microdeletion syndrome Malformation syndrome 166100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 Autosomal dominant otospondylomegaepiphyseal dysplasia Malformation syndrome 168569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 H syndrome Malformation syndrome 171848 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome Disease 171851 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 MEDNIK syndrome Disease 199343 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 EAST syndrome Disease 220295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 Xeroderma pigmentosum-Cockayne syndrome complex Disease 228012 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Disease 280406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness Disease 289553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 Dysmorphism-conductive hearing loss-heart defect syndrome Malformation syndrome 293958 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Malformation syndrome 293967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Malformation syndrome 300284 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency Disease 300333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome Disease 314404 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Disease 314597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 Chudley-McCullough syndrome Malformation syndrome 324321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 Sinoatrial node dysfunction and deafness Disease 329336 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Disease 330029 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 Hypotrichosis-deafness syndrome Disease 330054 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Disease 352328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 MEGDEL syndrome Disease 363396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 High myopia-sensorineural deafness syndrome Disease 363649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome Disease 369939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Malformation syndrome 371212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371212 Congenital disorder of glycosylation with deafness as a major feature Category 3474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 CHIME syndrome Malformation syndrome 244310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 RFT1-CDG Disease 363417 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 Temtamy preaxial brachydactyly syndrome Malformation syndrome 397744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Disease 402041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 Autosomal recessive distal renal tubular acidosis Clinical subtype 411590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 Wolfram-like syndrome Disease 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 438134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 PCNA-related progressive neurodegenerative photosensitivity syndrome Disease 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 443098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098 Hyperostosis cranialis interna Disease 443995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 Mandibulofacial dysostosis with alopecia Malformation syndrome 445062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome Disease 448251 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251 Progressive autosomal recessive ataxia-deafness syndrome Disease 480 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Kearns-Sayre syndrome Disease 550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 MELAS Disease 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 Wolf-Hirschhorn syndrome Malformation syndrome 637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 Full NF2-related schwannomatosis Disease 649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 Norrie disease Malformation syndrome 857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 Townes-Brocks syndrome Malformation syndrome 107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 BOR syndrome Malformation syndrome 861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 Treacher-Collins syndrome Malformation syndrome 998 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 Albinism-deafness syndrome Malformation syndrome 999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999 Ermine phenotype Malformation syndrome 1000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 Ocular albinism with late-onset sensorineural deafness Disease 3085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Malformation syndrome 477 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 KID syndrome Disease 705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 Pendred syndrome Malformation syndrome 63 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 Alport syndrome Disease 88917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 X-linked Alport syndrome Clinical subtype 88918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 Autosomal dominant Alport syndrome Clinical subtype 88919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 Autosomal recessive Alport syndrome Clinical subtype 1018 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 X-linked Alport syndrome-diffuse leiomyomatosis Clinical subtype 653722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 Digenic Alport syndrome Clinical subtype 191 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 Cockayne syndrome Disease 1466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 COFS syndrome Clinical subtype 90321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 Cockayne syndrome type 1 Clinical subtype 90322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 Cockayne syndrome type 2 Clinical subtype 90324 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 Cockayne syndrome type 3 Clinical subtype 886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886 Usher syndrome Disease 231183 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183 Usher syndrome type 3 Clinical subtype 231169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169 Usher syndrome type 1 Clinical subtype 231178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178 Usher syndrome type 2 Clinical subtype 3440 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 Waardenburg syndrome Disease 894 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 Waardenburg syndrome type 1 Clinical subtype 895 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 Waardenburg syndrome type 2 Clinical subtype 896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 Waardenburg syndrome type 3 Clinical subtype 3463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 Wolfram syndrome 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 897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 Waardenburg-Shah syndrome Disease 500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 Noonan syndrome with multiple lentigines Malformation syndrome 2052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 Fraser syndrome Malformation syndrome 2597 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome Disease 64 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 Alström syndrome Disease 1144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome Malformation syndrome 1187 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 Lethal ataxia with deafness and optic atrophy Disease 1188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 Ataxia-deafness-intellectual disability syndrome Malformation syndrome 1200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 Burn-McKeown syndrome Malformation syndrome 1248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 Maxillonasal dysplasia Malformation syndrome 1368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 Cataract-ataxia-deafness syndrome Disease 1399 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 Richards-Rundle syndrome Malformation syndrome 1435 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 Xq21 microdeletion syndrome Malformation syndrome 1490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 Corneal dystrophy-perceptive deafness syndrome Malformation syndrome 1529 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529 Craniofacial-deafness-hand syndrome Malformation syndrome 1883 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 Ectodermal dysplasia-sensorineural deafness syndrome Malformation syndrome 2003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 Cleft lip/palate-deafness-sacral lipoma syndrome Malformation syndrome 2027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027 Gingival fibromatosis-progressive deafness syndrome Malformation syndrome 2155 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 Hirschsprung disease-deafness-polydactyly syndrome Malformation syndrome 2202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 Palmoplantar keratoderma-deafness syndrome Disease 1051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 Ramos-Arroyo syndrome Malformation syndrome 2237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome Malformation syndrome 494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 Keratoderma hereditarium mutilans Disease 2405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405 Thickened earlobes-conductive deafness syndrome Malformation syndrome 2408 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408 Lowe-Kohn-Cohen syndrome Malformation syndrome 2502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Malformation syndrome 3216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3216 Conductive deafness-malformed external ear syndrome Malformation syndrome 544503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 RNF13-related severe early-onset epileptic encephalopathy 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 90652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 Otopalatodigital syndrome type 2 Malformation syndrome 557003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 Oculoskeletodental syndrome Disease 589856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-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 500144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Malformation syndrome 631248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248 Mitchell Syndrome Disease 457351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Malformation syndrome 2074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 Gemignani syndrome Malformation syndrome 457223 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Disease 2663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 Nathalie syndrome Malformation syndrome 231720 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Malformation syndrome 182050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 MYH9-related syndromic thrombocytopenia Disease 2533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 Microcephaly-deafness-intellectual disability syndrome Malformation syndrome 2589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589 Myoclonus-cerebellar ataxia-deafness syndrome Malformation syndrome 2608 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 N syndrome Malformation syndrome 2668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668 Nephropathy-deafness-hyperparathyroidism syndrome Malformation syndrome 2669 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 Nephrosis-deafness-urinary tract-digital malformations syndrome Malformation syndrome 2690 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690 Neutropenia-monocytopenia-deafness syndrome Disease 2698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Disease 2732 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732 Olivopontocerebellar atrophy-deafness syndrome Malformation syndrome 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 2815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815 Spastic paraparesis-deafness syndrome Malformation syndrome 2820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 Spastic paraplegia-nephritis-deafness syndrome Clinical syndrome 2855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 Perrault syndrome Disease 642945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 Perrault syndrome type 1 Clinical subtype 642976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 Perrault syndrome type 2 Clinical subtype 2866 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Malformation syndrome 3214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 Deaf blind hypopigmentation syndrome, Yemenite type Malformation syndrome 3217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217 Deafness-small bowel diverticulosis-neuropathy syndrome Disease 3218 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218 Deafness-epiphyseal dysplasia-short stature syndrome Malformation syndrome 3219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 Fountain syndrome Malformation syndrome 3220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 Deafness-enamel hypoplasia-nail defects syndrome Malformation syndrome 3224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Malformation syndrome 3225 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome Malformation syndrome 3230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230 Deafness-oligodontia syndrome Malformation syndrome 3231 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 Deafness-onychodystrophy syndrome Clinical group 79499 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 Autosomal dominant deafness-onychodystrophy syndrome Malformation syndrome 79500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 DOORS syndrome Malformation syndrome 3232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232 Deafness-ear malformation-facial palsy syndrome Malformation syndrome 3233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233 Cochleosaccular degeneration-cataract syndrome Malformation syndrome 3235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235 Progressive deafness with stapes fixation Malformation syndrome 3237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 Multiple synostoses syndrome Malformation syndrome 3238 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238 Cardiospondylocarpofacial syndrome Malformation syndrome 3239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239 Deafness-vitiligo-achalasia syndrome Malformation syndrome 3241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241 Deafness-craniofacial syndrome Malformation syndrome 1192 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Malformation syndrome 1383 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 Cataract-deafness-hypogonadism syndrome Malformation syndrome 1123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 Caudal appendage-deafness syndrome Malformation syndrome 90650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 Otopalatodigital syndrome type 1 Malformation syndrome 1171 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Disease 3240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Disease 42665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 Tietz syndrome Malformation syndrome 49827 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 Thiamine-responsive megaloblastic anemia syndrome Disease 50811 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 Lipodystrophy-intellectual disability-deafness syndrome Disease 50815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 Branchiogenic deafness syndrome Malformation syndrome 52368 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 Mohr-Tranebjaerg syndrome Disease 52429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429 Branchiootic syndrome Malformation syndrome 64747 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 X-linked Charcot-Marie-Tooth disease Clinical group 99014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 X-linked Charcot-Marie-Tooth disease type 5 Disease 101075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 X-linked Charcot-Marie-Tooth disease type 1 Disease 101076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 X-linked Charcot-Marie-Tooth disease type 2 Disease 101077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 X-linked Charcot-Marie-Tooth disease type 3 Disease 101078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 X-linked Charcot-Marie-Tooth disease type 4 Disease 352675 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 X-linked Charcot-Marie-Tooth disease type 6 Disease 66633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 Sensorineural hearing loss-early graying-essential tremor syndrome Disease 69737 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 Bosley-Salih-Alorainy syndrome Malformation syndrome 69739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 Athabaskan brainstem dysgenesis syndrome Disease 71267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability 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 79107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 Developmental malformations-deafness-dystonia syndrome Malformation syndrome 85321 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 Deafness-intellectual disability syndrome, Martin-Probst type Malformation syndrome 89938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 Bartter syndrome type 4 Clinical subtype 90024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024 Deafness with labyrinthine aplasia, microtia, and microdontia Malformation syndrome 90103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Malformation syndrome 90646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646 Deafness-hypogonadism syndrome Malformation syndrome 90647 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 Jervell and Lange-Nielsen syndrome Disease 90658 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 Charcot-Marie-Tooth disease type 1E Disease 94064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064 Deafness-infertility syndrome Malformation syndrome 97229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229 Riboflavin transporter deficiency Malformation syndrome 572543 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 RFVT2-related riboflavin transporter deficiency Clinical subtype 572550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 RFVT3-related riboflavin transporter deficiency Clinical subtype 139512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 Neuropathy with hearing impairment Disease 140917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917 Stapes ankylosis with broad thumbs and toes Malformation syndrome 140963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 Bilateral microtia-deafness-cleft palate syndrome Malformation syndrome 2838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 Renal caliceal diverticuli-deafness syndrome Malformation syndrome 163668 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 Spondyloepiphyseal dysplasia, MacDermot type Malformation syndrome 163746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Disease 500188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome Malformation syndrome 447954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 Combined oxidative phosphorylation defect type 25 Disease 456312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 Infantile multisystem neurologic-endocrine-pancreatic disease Disease 456318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 Hereditary sensory neuropathy-deafness-dementia syndrome Disease 494439 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Malformation syndrome 494444 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Disease 488232 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 Split-foot malformation-mesoaxial polydactyly syndrome Malformation syndrome 542585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 Auditory neuropathy-optic atrophy syndrome Disease 543470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Disease 611201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 Oculogastrointestinal-neurodevelopmental 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 603494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome Malformation syndrome 633014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome Disease 633021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome Clinical subtype 633024 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome Clinical subtype 659975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome Malformation syndrome 662179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome Malformation syndrome 684216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome Malformation syndrome 688581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome Malformation syndrome 688642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 Turnpenny-Fry syndrome Malformation syndrome 652532 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532 Adult-onset progressive leukoencephalopathy-early-onset deafness Disease 656130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 PBX1-related congenital anomalies of kidney-urinary tract syndrome Disease 90059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90059 Sudden sensorineural hearing loss Particular clinical situation in a disease or syndrome 87884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884 Rare non-syndromic genetic deafness Disease 90636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Etiological subtype 90641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 Rare mitochondrial non-syndromic sensorineural deafness Etiological subtype 90625 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625 Rare X-linked non-syndromic sensorineural deafness type DFN Etiological subtype 90635 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Etiological subtype 71276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71276 Silent sinus syndrome Disease 88620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620 Isolated congenital anosmia Disease 96333 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96333 Rare otorhinolaryngological malformation Category 155835 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155835 Cysts and fistulae of the face and oral cavity Category 93953 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953 Familial thyroglossal duct cyst Morphological anomaly 141013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013 First branchial cleft anomaly Morphological anomaly 141022 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022 Second branchial cleft anomaly Morphological anomaly 141030 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030 Third branchial cleft anomaly Morphological anomaly 141037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037 Fourth branchial cleft anomaly Morphological anomaly 141046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046 Cervical dermoid cyst Morphological anomaly 141051 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051 Facial dermoid cyst Morphological anomaly 141061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061 Commissural lip fistula Morphological anomaly 141064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064 Isolated lower lip fistula Morphological anomaly 141067 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067 Cervicofacial fibrochondroma Morphological anomaly 141071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071 Isolated digestive duplication cyst of the tongue Morphological anomaly 141103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103 Nasal dermoid cyst Morphological anomaly 141219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219 Nasal dorsum fistula Morphological anomaly 155838 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838 Pinnae fistula or cyst Morphological anomaly 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 156243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156243 Pinnae and external auditory canal anomaly Category 83463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463 Microtia Morphological anomaly 93976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976 Anotia Morphological anomaly 141074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 External auditory canal aplasia/hypoplasia Morphological anomaly 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 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 500188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome Malformation syndrome 156246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156246 Nose and cavum anomaly Category 99141 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 Lymphedema-posterior choanal atresia syndrome Malformation syndrome 2250 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Disease 1200 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 Burn-McKeown syndrome Malformation syndrome 1252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 Blepharonasofacial malformation syndrome Malformation syndrome 2363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 Lacrimoauriculodentodigital syndrome Malformation syndrome 2695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 Bifid nose Malformation syndrome 3026 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026 Radial ray hypoplasia-choanal atresia syndrome Malformation syndrome 1134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134 Isolated arrhinia Malformation syndrome 137622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome Malformation syndrome 137914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914 Choanal atresia Morphological anomaly 137917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917 Choanal atresia, unilateral Clinical subtype 137920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920 Choanal atresia, bilateral Clinical subtype 141083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 Nasolacrimal duct cyst Morphological anomaly 141091 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091 Polyrrhinia Malformation syndrome 141096 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096 Supernumerary nostril Malformation syndrome 141099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099 Proboscis lateralis Malformation syndrome 141112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112 Nasal glial heterotopia Disease 141118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 Nasal encephalocele Clinical subtype 157832 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 Craniorhiny Malformation syndrome 162516 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516 Isolated congenital nasal pyriform aperture stenosis Malformation syndrome 217266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 BNAR syndrome Malformation syndrome 466695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695 Supratip dysplasia Morphological anomaly 451612 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 Familial congenital nasolacrimal duct obstruction Morphological anomaly 589856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Malformation syndrome 156249 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156249 Larynx anomaly Category 2373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373 Congenital laryngomalacia Malformation syndrome 2374 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374 Isolated congenital laryngeal web Malformation syndrome 1202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202 Larynx atresia Malformation syndrome 2372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372 Laryngocele Malformation syndrome 2004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 Laryngotracheoesophageal cleft Morphological anomaly 93938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 Laryngotracheoesophageal cleft type 1 Clinical subtype 93939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939 Laryngotracheoesophageal cleft type 2 Clinical subtype 93940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940 Laryngotracheoesophageal cleft type 3 Clinical subtype 93941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 Laryngotracheoesophageal cleft type 4 Clinical subtype 280205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 Laryngotracheoesophageal cleft type 0 Clinical subtype 2291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291 Congenital velopharyngeal incompetence Morphological anomaly 2808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808 Laryngeal abductor paralysis Malformation syndrome 137926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926 Primary laryngeal lymphangioma Malformation syndrome 137932 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932 Congenital laryngeal palsy Malformation syndrome 137935 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 Airway infantile hemangioma Disease 141121 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121 Congenital subglottic stenosis Malformation syndrome 141124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124 Congenital laryngeal cyst Morphological anomaly 156252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156252 Tracheal anomaly Category 3346 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 Tracheal agenesis Morphological anomaly 95430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 Congenital tracheomalacia Morphological anomaly 141127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127 Congenital tracheal stenosis Morphological anomaly 164004 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004 Middle and/or inner ear anomaly Category 502318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318 Cochlear nerve deficiency Morphological anomaly 686556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686556 Isolated congenital cholesteatoma of the middle ear Morphological anomaly 502305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305 Cochleovestibular malformation Morphological anomaly 162526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526 Isolated congenital auditory ossicle malformation Morphological anomaly 98061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98061 Rare otorhinolaryngologic tumor Category 667678 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667678 Intraoral basal cell carcinoma Disease 150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=150 Nasopharyngeal carcinoma Disease 100083 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083 Laryngeal neuroendocrine tumor Disease 100084 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100084 Middle ear neuroendocrine tumor Disease 141077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077 Epignathus Clinical subtype 141107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107 Nasopharyngeal teratoma Clinical subtype 141112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112 Nasal glial heterotopia Disease 141115 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115 Nasal ganglioglioma Disease 67037 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67037 Squamous cell carcinoma of head and neck Category 494547 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494547 Squamous cell carcinoma of the hypopharynx Disease 494550 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494550 Squamous cell carcinoma of the larynx Disease 500464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses Disease 500478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500478 Squamous cell carcinoma of the oropharynx Disease 502369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502369 Squamous cell carcinoma of oral cavity and lip Category 502363 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502363 Squamous cell carcinoma of the oral cavity Disease 502366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502366 Squamous cell carcinoma of the lip Disease 289596 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289596 Juvenile nasopharyngeal angiofibroma Disease 252175 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252175 Vestibular schwannoma Clinical subtype 156237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156237 Syndrome or malformation associated with head and neck malformations Category 276280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 Hemihyperplasia-multiple lipomatosis syndrome Malformation syndrome 458833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833 Common cystic lymphatic malformation Clinical group 79489 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489 Macrocystic lymphatic malformation Malformation syndrome 79490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490 Microcystic lymphatic malformation Malformation syndrome 458792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792 Mixed cystic lymphatic malformation Malformation syndrome 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 BOR syndrome Malformation syndrome 116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 Beckwith-Wiedemann syndrome Malformation syndrome 96076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication Etiological subtype 96193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Etiological subtype 231117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Etiological subtype 231120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation Etiological subtype 231127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion Etiological subtype 231130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Etiological subtype 1600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 Monosomy 18q syndrome Malformation syndrome 246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 Postaxial acrofacial dysostosis Malformation syndrome 718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 Isolated Pierre Robin sequence Malformation syndrome 744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 Proteus syndrome Malformation syndrome 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 Simpson-Golabi-Behmel syndrome Malformation syndrome 888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 Van der Woude 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 1150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150 Arthrogryposis multiplex congenita-whistling face syndrome Malformation syndrome 1248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 Maxillonasal dysplasia Malformation syndrome 1401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 CHAND syndrome Malformation syndrome 1896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 EEC syndrome Malformation syndrome 2215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 Multiple pterygium-malignant hyperthermia syndrome Malformation syndrome 2461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 Marden-Walker syndrome Malformation syndrome 2952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952 Adducted thumbs-arthrogryposis syndrome, Christian type Malformation syndrome 2460 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 Van den Ende-Gupta syndrome Malformation syndrome 90650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 Otopalatodigital syndrome type 1 Malformation syndrome 91397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397 Isolated ankyloblepharon filiforme adnatum Morphological anomaly 138044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044 Rare disease with Pierre Robin syndrome Category 2886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 TARP syndrome Malformation syndrome 138041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138041 Pierre Robin syndrome associated with collagen disease Category 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 485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 Kniest dysplasia Disease 166100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 Autosomal dominant otospondylomegaepiphyseal dysplasia Malformation syndrome 138047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138047 Pierre Robin syndrome associated with a chromosomal anomaly Category 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 436003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 Contractures-developmental delay-Pierre Robin syndrome Malformation syndrome 261323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 21q22.11q22.12 microdeletion syndrome Malformation syndrome 138050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138050 Pierre Robin syndrome associated with branchial archs anomalies Category 861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 Treacher-Collins syndrome Malformation syndrome 245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 Nager syndrome Malformation syndrome 138055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138055 Pierre Robin syndrome associated with bone disease Category 87 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 Apert syndrome Malformation syndrome 1190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 Atelosteogenesis type I Malformation syndrome 56304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 Atelosteogenesis type II Malformation syndrome 56305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 Atelosteogenesis type III Malformation syndrome 199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 Cornelia de Lange syndrome Malformation syndrome 138059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059 Teratogenic Pierre Robin syndrome Category 1919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 Phenobarbital embryopathy Malformation syndrome 1920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 Toluene embryopathy Malformation syndrome 1923 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 Methimazole embryofetopathy Malformation syndrome 1926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 Diabetic embryopathy Malformation syndrome 2209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 Maternal phenylketonuria syndrome Malformation syndrome 2216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 Maternal hyperthermia-induced birth defects Malformation syndrome 2305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 Isotretinoin syndrome Malformation syndrome 1915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 Fetal alcohol syndrome Malformation syndrome 295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 Fetal parvovirus syndrome Malformation syndrome 1906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 Fetal valproate spectrum disorder Malformation syndrome 1908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 Aminopterin/methotrexate embryofetopathy Malformation syndrome 1909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 Indomethacin embryofetopathy Malformation syndrome 1910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 Fetal iodine syndrome Malformation syndrome 1911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 Cocaine embryofetopathy Malformation syndrome 1918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 Fetal minoxidil syndrome Malformation syndrome 1912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 Fetal hydantoin syndrome Malformation syndrome 1913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 Fetal trimethadione syndrome Malformation syndrome 1914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 Vitamin K antagonist embryofetopathy Malformation syndrome 1917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 Fetal methylmercury syndrome Malformation syndrome 485358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 Propylthiouracil embryofetopathy Malformation syndrome 364577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 Intellectual disability-brachydactyly-Pierre Robin syndrome Malformation syndrome 139039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139039 Orofacial clefting syndrome Category 564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 Meckel syndrome Malformation syndrome 124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 Diamond-Blackfan anemia Disease 3103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 Roberts syndrome Malformation syndrome 1473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 Uveal coloboma-cleft lip and palate-intellectual disability Malformation syndrome 1358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 Carey-Fineman-Ziter syndrome Malformation syndrome 916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 Aase-Smith syndrome type 1 Malformation syndrome 920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 Ablepharon macrostomia syndrome Malformation syndrome 921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 Abruzzo-Erickson syndrome Malformation syndrome 1226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 Bamforth-Lazarus syndrome Malformation syndrome 1241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241 Bencze syndrome Malformation syndrome 1297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 Branchio-oculo-facial syndrome Malformation syndrome 1388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 Catel-Manzke syndrome Malformation syndrome 1484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome Malformation syndrome 1512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 Crane-Heise syndrome Malformation syndrome 1988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 Femoral-facial syndrome Malformation syndrome 1993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 Pai syndrome Malformation syndrome 1997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 Blepharo-cheilo-odontic syndrome Malformation syndrome 2001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome Malformation syndrome 2003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 Cleft lip/palate-deafness-sacral lipoma syndrome Malformation syndrome 2008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 Acrocardiofacial syndrome Malformation syndrome 2013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013 Cleft palate-large ears-small head syndrome Malformation syndrome 2016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 Cleft palate-lateral synechia syndrome Malformation syndrome 2075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 Genitopalatocardiac syndrome Malformation syndrome 376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 Gordon syndrome Malformation syndrome 2117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 Hartsfield syndrome Malformation syndrome 2167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167 Holzgreve syndrome Malformation syndrome 2189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 Hydrolethalus Malformation syndrome 2213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 Hypertelorism-microtia-facial clefting syndrome Malformation syndrome 2319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 Juberg-Hayward syndrome Malformation syndrome 2328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 Kapur-Toriello syndrome Malformation syndrome 2432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 Macrosomia-microphthalmia-cleft palate syndrome Malformation syndrome 2476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome Malformation syndrome 2511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 Microbrachycephaly-ptosis-cleft lip syndrome Malformation syndrome 2521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome 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 2714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 Oculo-palato-cerebral syndrome Malformation syndrome 2723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 Odontotrichomelic syndrome Malformation syndrome 2736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 Lethal omphalocele-cleft palate syndrome Malformation syndrome 2804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 W syndrome Malformation syndrome 2825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825 PARC syndrome Malformation syndrome 2854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 Fuhrmann syndrome Malformation syndrome 2888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888 Pierre Robin syndrome-faciodigital anomaly syndrome Malformation syndrome 3021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 RAPADILINO syndrome Malformation syndrome 3102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 Richieri Costa-Pereira syndrome Malformation syndrome 3104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104 Robin sequence-oligodactyly syndrome Malformation syndrome 3201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome Malformation syndrome 3253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 Cleft lip/palate-ectodermal dysplasia syndrome Malformation syndrome 3316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 Thomas syndrome Malformation syndrome 3329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 Tibial aplasia-ectrodactyly syndrome Malformation syndrome 3338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 Toriello-Carey syndrome Malformation syndrome 3424 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424 Velo-facial-skeletal syndrome Malformation syndrome 3429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429 Verloove Vanhorick-Brubakk syndrome Malformation syndrome 3448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 Weaver-Williams syndrome Malformation syndrome 477993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Malformation syndrome 1415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 Hardikar syndrome Malformation syndrome 2015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 Cleft palate-short stature-vertebral anomalies syndrome Malformation syndrome 1779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779 Dysmorphism-cleft palate-loose skin syndrome Malformation syndrome 3263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263 Syngnathia-cleft palate syndrome Malformation syndrome 503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 Larsen syndrome Malformation syndrome 66629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 Goldberg-Shprintzen megacolon syndrome Malformation syndrome 77300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome Malformation syndrome 79113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 Mandibulofacial dysostosis-microcephaly syndrome Malformation syndrome 91494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 Macular coloboma-cleft palate-hallux valgus syndrome Malformation syndrome 140963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 Bilateral microtia-deafness-cleft palate syndrome Malformation syndrome 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 166100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 Autosomal dominant otospondylomegaepiphyseal dysplasia Malformation syndrome 168572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 Native American myopathy 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 324601 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601 X-linked cleft palate and ankyloglossia Malformation syndrome 660021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Malformation syndrome 508476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome Malformation syndrome 1794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 Oculomaxillofacial dysostosis 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 141214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214 Isolated congenital syngnathia Malformation syndrome 294963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 Popliteal pterygium syndrome Clinical group 1234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 Bartsocas-Papas syndrome Malformation syndrome 1300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 Autosomal dominant popliteal pterygium syndrome Malformation syndrome 90652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 Otopalatodigital syndrome type 2 Malformation syndrome 694956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome Malformation syndrome 576278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 SATB2-associated syndrome Malformation syndrome 251028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 SATB2-associated syndrome due to a chromosomal rearrangement Etiological subtype 576283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 SATB2-associated syndrome due to a pathogenic variant Etiological subtype 171684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171684 Idiopathic bilateral vestibulopathy Disease 210272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210272 Mal de débarquement Clinical syndrome 420402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420402 Semicircular canal dehiscence syndrome Clinical syndrome 449566 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449566 Eosinophilic angiocentric fibrosis Disease 449432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449432 IgG4-related submandibular gland disease Clinical subtype 79078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79078 IgG4-related dacryoadenitis and sialadenitis Clinical subtype 60032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60032 Recurrent respiratory papillomatosis Disease 652681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652681 Idiopathic subglottic stenosis Disease