WAGR Syndrome/11p Deletion Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report WAGR Syndrome/11p Deletion Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms Back to top
- 11p deletion syndrome
- chromosome 11p deletion syndrome
- WAGR complex
Disorder Subdivisions Back to top
- AGR triad
- aniridia-ambiguous genitalia-mental retardation
- aniridia-Wilms' tumor association
- aniridia-Wilms' tumor-gonadoblastoma
General Discussion Back to top
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.
Resources Back to top
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Ambiguous Genitalia Support Network
P.O. Box 313
Clements, CA 95227-0313
American Kidney Fund, Inc.
6110 Executive Boulevard
Rockville, MD 20852
American Childhood Cancer Organization
10920 Connecticut Ave
Kensington, MD 20895
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
American Cancer Society, Inc.
1599 Clifton Road NE
Atlanta, GA 30329
Glaucoma Research Foundation
490 Post Street
San Francisco, CA 94102
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
International WAGR Syndrome Association
PO Box 392
Allen Park, MI 48101
Rare Cancer Alliance
1649 North Pacana Way
Green Valley, AZ 85614
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
109 Gavin Way
Colchester, CO4 9FR
Tel: (+44) 01206 842 742
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Friends of Cancer Research
1800 M Street NW
Suite 1050 South
Washington, DC 22202
Cancer Support Community
1050 17th St NW
Washington, DC 20036
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 10/22/2010
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