WAGR syndrome

Last reviewed 01/2018

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.

Reference:

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