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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.


  • chromosome 11p deletion syndrome
  • WAGR complex

Disorder Subdivisions

  • AGR triad
  • aniridia-ambiguous genitalia-mental retardation
  • aniridia-Wilms' tumor association
  • aniridia-Wilms' tumor-gonadoblastoma
  • AWTA

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.


March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637



Ambiguous Genitalia Support Network

P.O. Box 313

Clements, CA 95227-0313


Tel: (209)727-0313

American Kidney Fund, Inc.

11921 Rockville Pike

Suite 300

Rockville, MD 20852


Tel: (800)638-8299



American Childhood Cancer Organization

10920 Connecticut Ave

Suite A

Kensington, MD 20895

Tel: (301)962-3520

Fax: (301)962-3521

Tel: (800)366-2223



National Kidney Foundation

30 East 33rd Street

New York, NY 10016

Tel: (212)889-2210

Fax: (212)689-9261

Tel: (800)622-9010



American Cancer Society, Inc.

250 Williams NW St

Ste 6000

Atlanta, GA 30303


Tel: (404)320-3333

Tel: (800)227-2345

TDD: (866)228-4327


Glaucoma Research Foundation

251 Post Street

Suite 600

San Francisco, CA 94108

Tel: (415)986-3162

Fax: (415)986-3763

Tel: (800)826-6693



NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065



International WAGR Syndrome Association

1218 Wooded Knoll

San Antonio, TN 78258




Rare Cancer Alliance

1649 North Pacana Way

Green Valley, AZ 85614



Aniridia Network UK

22 Cornish House

Adelaide Lane

Sheffield, S3 8BJ

United Kingdom

Tel: 4407792867949



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

TDD: (888)205-3223


Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766



Friends of Cancer Research

1800 M Street NW

Suite 1050 South

Washington, DC 22202

Tel: (202)944-6700



Cancer Support Community

1050 17th St NW Suite 500

Washington, DC 20036

Tel: (202)659-9709

Fax: (202)974-7999

Tel: (888)793-9355


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 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 or email

Last Updated:  10/22/2010

Copyright  1994, 1999, 2007, 2010 National Organization for Rare Disorders, Inc.

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