Branchiogenic deafness syndrome

Orpha code: 50815OMIM code: 609166

Definition

Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.

Disease data
Classification

Malformation syndrome

Synonyms
Branchiogenic hearing loss syndrome
Zespół Mégarbané i Loiselet
Mégarbané-Loiselet syndrome
ORPHA code
50815
OMIM code
609166
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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