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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Ear, Nose, and Throat Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* 22q11.2 deletion syndrome
* Albinism ocular late onset sensorineural deafness
* Alport syndrome
* Alström syndrome
* Ankyloblepharon filiforme imperforate anus
* Apert syndrome
* Arhinia choanal atresia microphthalmia
* Arthrogryposis-like hand anomaly and sensorineural deafness
* Atelosteogenesis type 1
* Atelosteogenesis type 2
* Atelosteogenesis type 3
* Athabaskan brainstem dysgenesis
* Auditory neuropathy
* Auriculo-condylar syndrome
* Autosomal recessive Alport syndrome
* Ayazi syndrome
* Barakat syndrome
* Bartter syndrome type 4
* Bifid nose
* Bifid nose with or without anorectal and renal anomalies
* Branchial arch syndrome X-linked
* Branchiootic syndrome
* Branchiootorenal syndrome
* Brown-Vialetto-Van Laere syndrome
* Burn-Mckeown syndrome
* Cataract ataxia deafness
* Cerebro-oculo-facio-skeletal syndrome
* Charcot-Marie-Tooth disease type 1E
* Charcot-Marie-Tooth disease X-linked 1
* Charcot-Marie-Tooth disease X-linked recessive 2
* Charcot-Marie-Tooth disease X-linked recessive 3
* CHARGE syndrome
* Cholesteatoma
* Cockayne syndrome type I
* Cockayne syndrome type II
* Cockayne syndrome type III
* Congenital anosmia
* Corneal dystrophy and perceptive deafness
* Cornelia de Lange syndrome
* Cowchock syndrome
* Craniofacial deafness hand syndrome
* Deafness enamel hypoplasia nail defects
* Deafness hypogonadism syndrome
* Deafness oligodontia syndrome
* Deafness, progressive with stapes fixation
* Deafness, X-linked 2
* Dentatorubral-pallidoluysian atrophy
* Duchenne muscular dystrophy
* Ermine phenotype
* Escher Hirt syndrome
* Feigenbaum Bergeron Richardson syndrome
* Fetal hydantoin syndrome
* Fetal valproate syndrome
* Fitzsimmons Walson Mellor syndrome
* Fountain syndrome
* Fragile X syndrome
* Fraser syndrome
* Gonadal dysgenesis, XX type
* Groll Hirschowitz syndrome
* Hay-Wells syndrome
* Hemifacial microsomia
* Hyperthermia induced defects
* Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* Jones syndrome
* Kabuki syndrome
* Kearns Sayre syndrome
* Keratoderma palmoplantar deafness
* KID syndrome
* Kniest dysplasia
* Konigsmark Knox Hussels syndrome
* Lacrimo-auriculo-dento-digital syndrome
* Lambert syndrome
* Laryngomalacia
* Larynx atresia
* LEOPARD syndrome
* Maternal hyperphenylalaninemia
* Maternally inherited diabetes and deafness
* Maxillonasal dysplasia, Binder type
*   Ménière's disease
* Methimazole antenatal infection
* Methyl mercury antenatal infection
* Microcephaly deafness syndrome
* Miller syndrome
* Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
* Mitochondrial myopathy with lactic acidosis
* Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
* Multiple familial trichoepithelioma 1
* Multiple synostoses syndrome 1
* Myoclonus cerebellar ataxia deafness
* N syndrome
* Nager acrofacial dysostosis
* Nephropathy, deafness, and hyperparathyroidism
* Norrie disease
* Novak syndrome
* Olivopontocerebellar atrophy deafness
* Orofaciodigital syndrome 1
* Orofaciodigital syndrome 10
* Orofaciodigital syndrome 11
* Orofaciodigital syndrome 2
* Orofaciodigital syndrome 3
* Orofaciodigital syndrome 4
* Orofaciodigital syndrome 5
* Orofaciodigital syndrome 6
* Orofaciodigital syndrome 8
* Orofaciodigital syndrome 9
* Oto-palato-digital syndrome type 1
* Palatopharyngeal incompetence
*   Patulous Eustachian Tube
* Pendred syndrome
* Phenobarbital antenatal infection
* Phocomelia ectrodactyly deafness sinus arrhythmia
* Pierre Robin sequence
* Polydactyly cleft lip palate psychomotor retardation
* Proteus syndrome
* Proximal chromosome 18q deletion syndrome
* Radial ray hypoplasia choanal atresia
* Reardon Wilson Cavanagh syndrome
* Richards-Rundle syndrome
* Senter syndrome
* SeSAME syndrome
* Short stature deafness neutrophil dysfunction
* Simpson-Golabi-Behmel syndrome
* Smith-Lemli-Opitz syndrome type 1
* Smith-Magenis syndrome
* Stickler syndrome type 1
* Stickler syndrome, type 2
* Stickler syndrome, type 3
* Sturge-Weber syndrome
* Thiamine responsive megaloblastic anemia syndrome
* Tietz syndrome
* Treacher Collins syndrome
* Usher syndrome type 2A
* Usher syndrome, type 1
* Van der Woude syndrome
* Vestibulocochlear dysfunction, progressive
* Vocal cord dysfunction familial
* Vohwinkel syndrome
* Waardenburg syndrome type 1
* Waardenburg syndrome type 2
* Waardenburg syndrome type 3
* Waardenburg syndrome type 4
* Wells-Jankovic syndrome
* Wolf-Hirschhorn syndrome
* X-linked Charcot-Marie-Tooth disease type 5
* Yemenite deaf-blind hypopigmentation syndrome