Conditions / Syndrome
Waardenburg syndrome type 2A
info · Syndrome
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MI
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13.
Signs and symptoms
- Premature graying of hair
- Sensorineural hearing impairment
- Numerous pigmented freckles
- Albinism
- Wide nasal bridge
- Underdeveloped nasal alae
- Hypoplastic iris stroma
- Partial albinism
- Synophrys
- White eyelashes
Also known as: WS2A; Waardenburg syndrome type IIA