Albinism deafness syndrome
Synonyms
6
Overview
A rare syndrome characterized by the association of deafness with partial albinism involving patches of absent pigmentation in the skin and hair. The disorder is inherited in a X-linked manner.
Symptoms
- Profound deafness from birth
- Mutism
- Partial albinism
- Patchy hair pigmentation
- Patchy skin pigmentation
- Irregular hyperpigmentation
- Neurological speech impairment
- Hypopigmented skin patches
- Sensorineural hearing impairment
Resources
- NIH