WAGR Syndrome/11p Deletion Syndrome

National Organization for Rare Disorders, Inc.

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Important
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

  • chromosome 11p deletion syndrome
  • WAGR complex

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

Ambiguous Genitalia Support Network

P.O. Box 313
Clements, CA 95227-0313
USA
Tel: (209)727-0313

American Cancer Society, Inc.

250 Williams NW St
Ste 6000
Atlanta, GA 30303
USA
Tel: (404)320-3333
Tel: (800)227-2345
Website: http://www.cancer.org

American Childhood Cancer Organization

10920 Connecticut Ave
Suite A
Kensington, MD 20895
Tel: (301)962-3520
Fax: (301)962-3521
Tel: (800)366-2223
Email: staff@acco.org
Website: http://www.acco.org

American Kidney Fund, Inc.

11921 Rockville Pike
Suite 300
Rockville, MD 20852
USA
Tel: (800)638-8299
Email: helpline@kidneyfund.org
Website: http://www.kidneyfund.org

Aniridia Network UK

22 Cornish House
Adelaide Lane
Sheffield, S3 8BJ
United Kingdom
Tel: 4407792867949
Email: info@aniridia.org.uk
Website: http://www.aniridia.org.uk

Cancer Support Community

1050 17th St NW Suite 500
Washington, DC 20036
Tel: (202)659-9709
Fax: (202)974-7999
Tel: (888)793-9355
Website: http://www.cancersupportcommunity.org/

Friends of Cancer Research

1800 M Street NW
Suite 1050 South
Washington, DC 22202
Tel: (202)944-6700
Email: info@focr.org
Website: http://www.focr.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Glaucoma Research Foundation

251 Post Street
Suite 600
San Francisco, CA 94108
Tel: (415)986-3162
Fax: (415)986-3763
Tel: (800)826-6693
Email: info@glaucoma.org
Website: http://www.glaucoma.org

International WAGR Syndrome Association

1218 Wooded Knoll
San Antonio, TN 78258
USA
Email: reachingout@wagr.org
Website: http://www.wagr.org/

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Website: http://www.marchofdimes.com

NIH/National Eye Institute

31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
Email: 2020@nei.nih.gov
Website: http://www.nei.nih.gov/

National Kidney Foundation

30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Website: http://www.kidney.org

Rare Cancer Alliance

1649 North Pacana Way
Green Valley, AZ 85614
USA
Website: http://www.rare-cancer.org

For a Complete Report

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 orphan@rarediseases.org

Last Updated:  12/18/1969
Copyright  2010 National Organization for Rare Disorders, Inc.