Waardenburg syndrome type 1

Definition

Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

Also known as Waardenburg syndrome type 1, Waardenburg syndrome type I, WS1 — per MONDO

Also identified as

• DOID 0110948 per MONDO
• NCIT C75008 per MONDO
• OMIM 193500 per MONDO
• Orphanet 894 per MONDO
• UMLS C1847800 per MONDO