Waardenburg syndrome type 4C

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 mutation in the SOX10 gene on chromosome 22q13.

Signs and symptoms

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

Also known as: WS4C; Waardenburg syndrome type IVC; Waardenburg syndrome with Hirschsprung disease type 4C