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WAGR Syndrome — RACP Paediatrics MCQ

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HardHaematology & OncologyWAGR SyndromeRACP Paediatrics

A 6-year-old presents with haematuria and a unilateral flank mass. CT shows a large heterogeneous renal mass with areas of haemorrhage. He has aniridia (absent iris). What genetic syndrome is associated?

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Correct answer: E — WAGR syndrome (Wilms tumour, Aniridia, GU anomalies, intellectual disability)

WAGR syndrome (11p13 deletion involving WT1 and PAX6 genes): Wilms tumour, Aniridia, Genitourinary anomalies, and intellectual disability (formerly 'mental Retardation'). Children with aniridia should have regular renal USS screening for Wilms tumour. Beckwith-Wiedemann is associated with hemihypertrophy and Wilms tumour but not aniridia.

Reference: ANZCHOG – 2024 – Treatment Guidelines: Wilms Tumour