WAGR

Deletion 11p13 involving WT1 + PAX6.

• Wilms tumour: ↑ risk, often bilateral; background nephrogenic rest.
• Aniridia: due to PAX6 involvement.
• Genitourinary anomalies: gonadal dysgenesis, cryptorchidism, ambiguous genitalia, other GU malformations.
• Intellectual disability / developmental delay (historically “mental retardation”)

Considered a Cancer predisposition syndrome because of high Wilms risk.

Screening implication: high-risk child → periodic renal US in early childhood to detect Wilms early.