Deafness-ear malformation-facial palsy syndrome

MONDO:0007421

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.

Also known as: Sellars-Beighton syndrome, deafness, conductive stapedial, with EAR malformation and facial palsy

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