Waardenburg syndrome type 3

Definition

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

Also known as Klein-Waardenburg syndrome, Waardenburg syndrome type III, Waardenburg syndrome with limb anomalies, Waardenburg syndrome with upper limb anomalies, WS3 — per MONDO

Also identified as

• DOID 0110949 per MONDO
• OMIM 148820 per MONDO
• Orphanet 896 per MONDO
• UMLS C0079661 per MONDO