Deafness-ear malformation-facial palsy syndrome
ORPHA:3232· ICD-10 Q87.0
Definition
Deafness-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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal