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Branchiogenic deafness syndrome
rareBranchiogenic 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.
- Identifiers
- MONDO:0012209 OMIM:609166Orphanet:50815
- Also known as
- MC)garbanC)-Loiselet syndrome · Mégarbané-Loiselet syndrome
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