An autosomal dominant or recessive form of Waardenburg Syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital SENSORINEURAL HEARING LOSS, and Hirschsprung disease. Mutations in the EDNRB gene have been identified. OMIM: 277580
Also Known As:
Waardenburg syndrome, type 4; Hirschsprung disease with pigmentary anomaly; Shah-Waardenburg syndrome; Waardenburg Syndrome With Hirschsprung Disease, Type 4a; Waardenburg Syndrome, Type 4a; Waardenburg Syndrome, Type Iva; Waardenburg-Hirschsprung disease; Waardenburg-Shah syndrome