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branchiogenic deafness syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0012209:  branchiogenic deafness syndrome
MESH:C563780: 
Orphanet:50815: 
SCTID:717944002: 
UMLS:C1836673: