Deafness-ear malformation-facial palsy syndrome

Orpha code: 3232OMIM code: 124490

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Hearing loss-ear malformation-facial palsy syndrome
Zespół Sellarsa i Beightona
Sellars-Beighton syndrome
Kod ORPHA
3232
Kod OMIM
124490
Kod ICD10
Q87.0
Kod ICD11
LD2F.1Y

No additional description.

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