/Waardenburg syndrome type 3

Waardenburg syndrome type 3

Rare Disease

MONDO:0007862

Also Known As

Klein-Waardenburg syndromeWS3Waardenburg syndrome type IIIWaardenburg syndrome with limb anomaliesWaardenburg syndrome with upper limb anomaliesWaardenburg syndrome, type 3White forelock (poliosis) syndrome with multiple congenital malformations

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.