Hereditary hearing disorders are among the most common known monogenic disorders and are characterised by strong genetic heterogeneity and clinical variability. Depending on the severity of the symptoms and age of onset, a hearing disorder can lead to serious social and cognitive impairments. Therefore, an early diagnosis and individualised medical care are essential.
A | Alport syndrome |
Alström syndrome | |
Auditory neuropathy | |
B | Branchio-oto-renal syndrome (BOR) |
C | CHARGE syndrome |
Cone-rod dystrophy and hearing loss | |
H | Hearing loss, mitochondrial disease |
Hearing loss, nonsyndromic, autosomal dominant (ADNSHL) | |
Hearing loss, nonsyndromic, autosomal recessive (ARNSHL) | |
Hearing loss, nonsyndromic, X-linked | |
J | Jervell-Lange-Nielsen syndrome |
M | Meniere's disease |
N | Norrie disease |
O | Oral-facial-digital syndrome (OFD) |
P | Pendred syndrome |
Perrault syndrome | |
Piebaldism | |
R | Refsum disease |
S | SANDD (Sinoatrial node dysfunktion and Deafness) |
SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance)-Syndrome/EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy)-Syndrome | |
Stickler syndrome | |
T | Deafness and myopia syndrome |
Treacher-Collins syndrome | |
U | Usher syndrome |
W | Waardenburg syndrome |
Z | Zellweger spectrum disease (peroxisome biogenesis defect) |