Ear, Nose, and Throat Diseases | Page 1

240 diseases found in 3 pages

2 Diseases

22q11.2 deletion syndrome

A Diseases

Ablepharon macrostomia syndrome Abruzzo-Erickson syndrome Acrodysostosis Albinism deafness syndrome Albinism ocular late onset sensorineural deafness Alport syndrome Alström syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon filiforme imperforate anus Apert syndrome Arhinia choanal atresia microphthalmia Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay Arthrogryposis-like hand anomaly and sensorineural deafness Arthrogryposis multiplex congenita whistling face Arts syndrome Atelosteogenesis type 1 Atelosteogenesis type 2 Atelosteogenesis type 3 Auditory neuropathy spectrum disorder Auriculo-condylar syndrome Ausems Wittebol-Post Hennekam syndrome Autosomal dominant cerebellar ataxia, deafness, and narcolepsy Autosomal dominant deafness-onychodystrophy syndrome Autosomal recessive Alport syndrome Ayazi syndrome

B Diseases

Bamforth syndrome Barakat syndrome Bartter syndrome type 4 Bifid nose Bifid nose with or without anorectal and renal anomalies Bixler Christian Gorlin syndrome Blepharo-cheilo-odontic syndrome Blepharonasofacial malformation syndrome Branchial arch syndrome X-linked Branchiooculofacial syndrome Branchiootic syndrome Branchiootorenal syndrome

C Diseases

Carey-Fineman-Ziter syndrome Cataract ataxia deafness Catel Manzke syndrome Caudal appendage deafness Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Cerebro-oculo-facio-skeletal syndrome Charcot-Marie-Tooth disease type 1E CHARGE syndrome Chitayat Meunier Hodgkinson syndrome Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Cholesteatoma Cleft hand absent tibia Cleft palate short stature vertebral anomalies Cockayne syndrome type I Cockayne syndrome type II Cockayne syndrome type III COG1-CDG (CDG-IIg) Conductive deafness with malformed external ear Congenital anosmia Congenital deafness with vitiligo and achalasia Congenital laryngeal palsy Congenital tracheal stenosis Congenital tracheomalacia Corneal dystrophy and perceptive deafness Cornelia de Lange syndrome Crane-Heise syndrome Craniofacial deafness hand syndrome

D Diseases

Deafness and myopia syndrome Deafness enamel hypoplasia nail defects Deafness, epiphyseal dysplasia, short stature Deafness hypogonadism syndrome Deafness-infertility syndrome Deafness-lymphedema-leukemia syndrome Deafness oligodontia syndrome Deafness, X-linked 2 Dentatorubral-pallidoluysian atrophy Diamond-Blackfan anemia DOOR syndrome Duchenne muscular dystrophy

E Diseases

EEC syndrome Ermine phenotype

F Diseases

Familial thyroglossal duct cyst Feigenbaum Bergeron Richardson syndrome Femoral facial syndrome Fetal hydantoin syndrome Fetal indomethacin syndrome Fetal methylmercury syndrome Fetal minoxidil syndrome Fetal valproate syndrome Fitzsimmons Walson Mellor syndrome Fountain syndrome Fragile X syndrome Fraser syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Fryns syndrome Fuhrmann syndrome

G Diseases

Gemignani syndrome Genito palato cardiac syndrome Goldberg-Shprintzen megacolon syndrome Goldenhar disease Gordon syndrome Groll Hirschowitz syndrome

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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