Conditions / Syndrome
Waardenburg syndrome type 3
info · Syndrome · ICD-10: E70.3
A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.
Signs and symptoms
- Short palpebral fissure
- Prominent nasal tip
- Delayed fine motor development
- Flexion contracture of finger
- Bilateral wrist flexion contracture
- Blue irides
- Partial albinism
- Epicanthus inversus
- Premature graying of hair
- Posteriorly rotated ears
Also known as: Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with upper limb anomalies