WAGR Syndrome/11p Deletion Syndrome
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
NORD is very grateful to Kelly Trout, RN, BSN, Health Consultant, International WAGR Syndrome/11p Deletion Syndrome Association, for assistance in the preparation of this report.
Synonyms of WAGR Syndrome/11p Deletion Syndrome
- chromosome 11p deletion syndrome
- WAGR complex
- AGR triad
- aniridia-ambiguous genitalia-mental retardation
- aniridia-Wilms' tumor association
- aniridia-Wilms' tumor-gonadoblastoma
WAGR syndrome/11p deletion syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. "WAGR" is an acronym for the characteristic abnormalities associated with the syndrome. The acronym stands for (W)ilms' Tumor, the most common form of kidney cancer in children; (A)niridia, partial or complete absence of the colored region of the eye(s) (iris or irides); (G) Genitourinary abnormalities, such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females; and Mental (R)etardation (intellectual disability). A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome/11p deletion syndrome. The clinical picture varies, depending upon the combination of associated abnormalities.
WAGR syndrome/11p deletion syndrome is caused by defects (mutations) of adjacent genes on a region of chromosome 11 (11p13). In most cases, such genetic changes (e.g., deletions at band 11p13) occur spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). In very rare cases, the mutation may be inherited as the result of a rearrangement of parts of two chromosomes, which causes the loss of some genetic material (translocation) or other heritable genetic abnormality. The presence of more than one type of chromosomal makeup within an individual (mosaic deletion) resulting in WAGR syndrome/11p deletion syndrome has also been reported.
Since 1964, the names given to this disorder have changed frequently as variations in the combination of clinical symptoms present and the range of genetic abnormalities associated with it have been discovered. The term "WAGR syndrome" is now being replaced by "11p deletion syndrome" to more accurately reflect current knowledge about the disorder and to allow for consistent clinical diagnosis and genetic classification in the future.
WAGR Syndrome/11p Deletion Syndrome Resources
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1994, 1999, 2007, 2010
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.