Conditions / Syndrome
Tietz syndrome
info · Syndrome
A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13.
Signs and symptoms
- Blue irides
- Fundus hypopigmentation
- White eyelashes
- Generalized hypopigmentation
- Congenital sensorineural hearing impairment
- White eyebrow
- Heterochromia iridis
Also known as: Tietz albinism-deafness syndrome; albinism-deafness of Tietz; hypopigmentation/deafness of Tietz