Waardenburg Syndrome Type 4

**Semantic type:** Disease or Syndrome

**Definition:** A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease.

**Synonyms:** - Waardenburg Syndrome Type IV - Waardenburg-Shah Syndrome