Waardenburg-Shah syndrome

Definition

Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.

Also known as Shah-Waardenburg syndrome, Waardenburg syndrome type 4, Waardenburg syndrome type IV, Waardenburg-Hirschsprung syndrome, Waardenburg-Shah syndrome, WS4 — per MONDO

Also identified as

• NCIT C124842 per MONDO
• Orphanet 897 per MONDO