WAGR Syndrome (11p13 deletion)
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A newborn is noted to have aniridia. Given this finding, the provider orders a CMA which shows an 11p13 deletion. The care team initiates Wilms tumor surveillance.
- Contiguous gene deletion: 11p13
- Includes WT1 (Wilms tumor) and PAX6 (aniridia)
WAGR
- Wilms tumor risk (~50%; highest risk under age 8)
- Aniridia (absence of iris)
- Genitourinary anomalies (cryptorchidism, hypospadias)
- Range of developmental delays (as with most microdeletion syndromes)
- Chromosomal microarray (CMA) is the first-line test and defines the extent of the 11p13 deletion, including involvement of WT1 and PAX6
- Isolated aniridia warrants PAX6 and 11p13 evaluation; finding a contiguous WT1 deletion establishes WAGR and triggers Wilms tumor surveillance
- WT1 involvement also raises the risk of nephropathy, so confirm whether WT1 is within the deleted segment
- Wilms tumor surveillance: renal ultrasound every 3 months until age 8
- Ophthalmologic evaluation