Waardenburg syndrome, type 4 [Supplementary Concept]

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

Date introduced: August 25, 2010

MeSH Unique ID: C536467

Heading Mapped to:

• Hirschsprung Disease
• Waardenburg Syndrome

Entry Terms:

• Waardenburg-Shah syndrome
• Waardenburg-Hirschsprung disease
• Shah-Waardenburg syndrome
• Hirschsprung disease with pigmentary anomaly
• Waardenburg Syndrome, Type 4a
• Waardenburg Syndrome, Type Iva
• Waardenburg Syndrome With Hirschsprung Disease, Type 4a