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Синдром WAGR

ORPHA:893· ICD-10 C64· WAGR syndrome

Визначення(English summary)

A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces.

Поширеність
1-9 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Antenatal, Neonatal