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Neuropathy with hearing impairment
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adult
- ICD-10: G60.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in members from four generations of a Spanish family.
The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation.
Neuropathy with hearing impairment is caused by mutations in the GJB3 gene (1p34).
The syndrome is transmitted in an autosomal dominant manner.