Deafness-ear malformation-facial palsy syndrome

Orpha code: 3232OMIM code: 124490

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.

Disease data
Classification

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl