WAGR Syndrome
Pronunciation: WAG-ar
Also written as: WAGR — Wilms tumour, Aniridia, Genitourinary anomalies, intellectual disability (Range)
A contiguous gene deletion syndrome characterised by Wilms tumour, Aniridia, Genitourinary anomalies, and intellectual disability (formerly 'Retardation'), caused by deletion at chromosome 11p13.
Full Definition
WAGR syndrome results from a deletion on chromosome 11p13 encompassing the WT1 (Wilms tumour suppressor) and PAX6 (aniridia) genes, among others. The four cardinal features—Wilms tumour, aniridia, genitourinary malformations, and intellectual disability—give the syndrome its acronym. Children with WAGR have an approximately 45–60% lifetime risk of developing Wilms tumour and require surveillance renal ultrasound. Pathologists reporting renal specimens from WAGR patients should specifically comment on the presence or absence of nephrogenic rests. Editors should note that the 'R' in WAGR now stands for 'intellectual disability' in contemporary literature, replacing the outdated term 'mental retardation'.
Usage
Usage note: The 'R' originally stood for 'retardation'; editorial policy at most journals now requires 'intellectual disability' in expanded forms.
In Context
- "The nephrectomy specimen was from a child with known WAGR syndrome; bilateral nephrogenic rests were identified." — Surgical pathology report
- "When editing, note that the 'R' in WAGR should be glossed as 'intellectual disability range' rather than 'mental retardation' in all contemporary publications." — Editorial style note