Waardenburg syndrome type 1
ORPHA:894· ICD-10 E70.3
Definition
A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal