Branchiogenic deafness syndrome

MONDO:0012209

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.

Also known as: MC)garbanC)-Loiselet syndrome, Mégarbané-Loiselet syndrome, BRANCHIOGENIC-deafness syndrome

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↑ Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (90)

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