Waardenburg syndrome type 4A

info · Syndrome

A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22.

Signs and symptoms

Heterochromia iridis
White forelock
Polyneuropathy
Global developmental delay
Hypotonia
Aganglionic megacolon
Ataxia
Hypopigmented skin patches
Nystagmus
Sensorineural hearing impairment

Also known as: WS4A; Waardenburg syndrome type IVA; Waardenburg syndrome with Hirschsprung disease type 4A