Branchiogenic deafness syndrome
Branchiogenic deafness syndrome
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.
Also known as MC)garbanC)-Loiselet syndrome, Mégarbané-Loiselet syndrome — per MONDO