Hearing Loss Association of America | Genetic and Rare Diseases Information Center (GARD)

Supported Diseases

Auditory neuropathy spectrum disorder

Synonyms: Auditory dys-synchrony, Auditory neuropathy, Auditory dyssynchrony, ANSD

Donnai-Barrow syndrome

Synonyms: Faciooculoacousticorenal syndrome, DBS/FOAR syndrome, Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria

Johanson-Blizzard syndrome

Synonyms: JBS, Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness

Jones syndrome

Synonyms: Gingival fibromatosis with progressive deafness, GFD, Gingival fibromatosis with sensorineural hearing loss, Familial gingival fibromatosis associated with progressive deafness

Knuckle pads, leuconychia and sensorineural deafness

Synonyms: Bart-Pumphrey syndrome, Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome, Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

Meier-Gorlin syndrome

Synonyms: Ear, patella, short stature syndrome, Microtia, absent patellae, micrognathia syndrome

Susac syndrome

Synonyms: Retinocochleocerebral vasculopathy, SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome

Tietz syndrome

Synonyms: Albinism-deafness of Tietz, Hypopigmentation/deafness of Tietz, Tietz albinism-deafness syndrome