This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

ARW syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The WAGR syndrome is a very rare multiple congenital anomaly–mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13

  • a contiguous gene deletion syndrome, and WAGR is an acronym for the primary features:
    • W for Wilms tumor
    • A for aniridia
    • G for genital anomalies
    • R for mental retardation
  • Wilms tumor and male genital anomalies are caused by deletion of the WT1 tumor-suppressor gene
  • aniridia is caused by deletion of PAX6 ocular developmental gene
  • mental retardation is presumed to be a consequence of deletion of multiple as yet unidentified genes in the region
  • the majority of cases are identified by chromosome studies of children with sporadic aniridia and are due to de novo deletions of 11p13, although a few familial translocations are reported
  • individuals with the WAGR syndrome have a high risk for developing Wilms tumor and late-onset renal failure, and should be monitored for these complications.


  1. WAGR Syndrome by Carol L Clericuzio in Management of Genetic Syndromes, Second Edition 2005, Edited by Suzanne B. Cassidy and Judith E. Allanson.

Related pages

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page