Waardenburg Syndrome Type 4A
SUBTYPE OF WAARDENBURG SYNDROME TYPE 4 (WAARDENBURG-SHAH SYNDROME) CAUSED BY MUTATIONS IN EDNRB
Shah-Waardenburg syndrome; The Waardenburg Syndrome Type 4A: Shah-Waardenburg Syndrome; Waardenburg Syndrome Type 4A: Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also present with symptoms of Hirschsprung’s disease.