Branchiogenic-Deafness Syndrome

Alternative Names

  • Megarbane-Loiselet Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

609166

Mode of Inheritance

Autosomal dominant

Description

The branchiogenic-deafness syndrome is an extremely rare condition with characteristic features including branchial arch anomalies, asymmetrical ear malformations, hearing loss, internal auditory canal hypoplasia, strabismus, trismus, abnormal 5th fingers, short stature, and learning disability.

Epidemiology in the Arab World

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Other Reports

Lebanon

Megarbane et al. (2003)  described a brother and sister in a  Sunni Lebanese family with a constellation of clinical features that had never previously been reported. 

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