Синдром Ваарденбурга
ORPHA:3440· ICD-10 E70.3· Waardenburg syndrome
Визначення(English summary)
Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Infancy, Neonatal