Conditions / Syndrome
Waardenburg syndrome type 2E
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 mutations in the S
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 mutations in the SOX10 gene on chromosome 22q13.
Signs and symptoms
- Blue irides
- Ocular albinism
- White forelock
- Sensorineural hearing impairment
- Fundus hypopigmentation
- Iris hypopigmentation
- Hypertonia
- Cerebral hypomyelination
- Hypopigmented skin patches
- Dilated vestibule of the inner ear
Also known as: WS2E; WS2E with or without neurological involvement; Waardenburg syndrome type 2E with or without neurologic involvement; Waardenburg syndrome type IIE; hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation