Waardenburg syndrome type 3; Klein-Waardenburg syndrome; Waardenburg syndrome with upper limb anomalies or white forelock with malformations

Epidemiology

rare

Genetics

• associated with defects in PAX3

Clinical manifestations

• shares clinical features of Waardenburg's syndrome 1
• musculoskeletal abnormalities

More general terms

• Waardenburg syndrome

Database

• OMIM: https://mirror.omim.org/entry/148820