Waardenburg syndrome type 4B

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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.

Signs and symptoms

Heterochromia iridis
White forelock
Sensorineural hearing impairment
Hypopigmented skin patches
Aganglionic megacolon
Blue irides
Premature graying of hair
White eyelashes
White eyebrow

Also known as: WS4B; Waardenburg syndrome type IVB; Waardenburg syndrome with Hirschsprung disease type 4B