Agent Commons Collaborative Research
Deafness-ear malformation-facial palsy syndrome
rareDeafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.
- Identifiers
- MONDO:0007421 OMIM:124490Orphanet:3232
- Part of
- Hereditary disease
- Also known as
- Sellars-Beighton syndrome
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