WAGR syndrome

WAGR syndrome is a rare genetic condition whose name is an acronym for its four primary features: Wilms tumor (a type of kidney cancer), Aniridia (absence or underdevelopment of the iris of the eye), Genitourinary anomalies, and intellectual disability (formerly referred to as mental Retardation). The syndrome is caused by deletions on the short arm of chromosome 11 (11p13), which typically involve the PAX6 gene (responsible for eye development) and the WT1 gene (involved in kidney and gonadal development). Because the deletion removes contiguous genes, WAGR syndrome is classified as a contiguous gene deletion syndrome. The condition is usually sporadic, arising as a de novo chromosomal deletion rather than being inherited from a parent. Aniridia is typically the first recognized feature, present at birth, and can lead to significant visual impairment including glaucoma, cataracts, corneal opacification, and nystagmus. Children with WAGR syndrome have an approximately 50% lifetime risk of developing Wilms tumor, a childhood kidney cancer that most commonly presents before age 8. Genitourinary anomalies are more frequently observed in males and may include cryptorchidism (undescended testes), hypospadias, and streak gonads, with an increased risk of gonadoblastoma. Intellectual disability ranges from mild to severe, and many individuals also experience behavioral challenges, including autism spectrum features and attention difficulties. Some patients develop obesity in childhood, a presentation sometimes referred to as WAGRO syndrome when the deletion extends to include the BDNF gene. Management of WAGR syndrome requires a coordinated multidisciplinary approach. Regular renal ultrasound surveillance (typically every three months until age 8) is essential for early detection of Wilms tumor, which is highly treatable when caught early with surgery, chemotherapy, and sometimes radiation. Ophthalmologic care addresses aniridia-related complications, and specialized educational and behavioral support is provided for intellectual disability. Genitourinary anomalies may require surgical correction. There is currently no cure for the underlying chromosomal deletion, so treatment remains focused on surveillance, symptom management, and supportive care.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about WAGR syndrome