Conditions / Syndrome
Waardenburg syndrome type 1
info · Syndrome
A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
Signs and symptoms
- Wide nasal bridge
- Telecanthus
- Synophrys
- Blue irides
- Premature graying of hair
- Blepharophimosis
- Aplasia of the vagina
- Smooth philtrum
- Hypertelorism
- Partial albinism
Also known as: WS1; Waardenburg syndrome type I