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Синдром Ваарденбурга, тип 3

ORPHA:896· ICD-10 E70.3· Waardenburg syndrome type 3

Визначення(English summary)

A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

Поширеність
Unknown
Успадкування
Autosomal dominant, Autosomal recessive
Вік початку
Neonatal