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.
chromosome 11p deletion syndrome
aniridia-ambiguous genitalia-mental retardation
aniridia-Wilms' tumor association
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 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
Ambiguous Genitalia Support Network P.O. Box 313 Clements, CA 95227-0313 USA Tel: (209)727-0313
American Kidney Fund, Inc. 11921 Rockville Pike Suite 300 Rockville, MD 20852 USA Tel: (800)638-8299 Email: firstname.lastname@example.org Internet: http://www.kidneyfund.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: email@example.com Internet: http://www.candlelighters.org
National Kidney Foundation 30 East 33rd Street New York, NY 10016 Tel: (212)889-2210 Fax: (212)689-9261 Tel: (800)622-9010 Email: firstname.lastname@example.org Internet: http://www.kidney.org
American Cancer Society, Inc. 250 Williams NW St Ste 6000 Atlanta, GA 30303 USA Tel: (404)320-3333 Tel: (800)227-2345 TDD: (866)228-4327 Internet: http://www.cancer.org
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: email@example.com Internet: http://www.glaucoma.org
NIH/National Eye Institute 31 Center Dr MSC 2510 Bethesda, MD 20892-2510 United States Tel: (301)496-5248 Fax: (301)402-1065 Email: firstname.lastname@example.org Internet: http://www.nei.nih.gov/
International WAGR Syndrome Association 1218 Wooded Knoll San Antonio, TN 78258 USA Email: email@example.com Internet: http://www.wagr.org/
Rare Cancer Alliance 1649 North Pacana Way Green Valley, AZ 85614 USA Internet: http://www.rare-cancer.org
Aniridia Network UK 22 Cornish House Adelaide Lane Sheffield, S3 8BJ United Kingdom Tel: 4407792867949 Email: firstname.lastname@example.org Internet: http://www.aniridia.org.uk
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 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Friends of Cancer Research 1800 M Street NW Suite 1050 South Washington, DC 22202 Tel: (202)944-6700 Email: firstname.lastname@example.org Internet: http://www.focr.org
Cancer Support Community 1050 17th St NW Suite 500 Washington, DC 20036 Tel: (202)659-9709 Fax: (202)974-7999 Tel: (888)793-9355 Internet: http://www.cancersupportcommunity.org/
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Last Updated: 10/22/2010 Copyright 1994, 1999, 2007, 2010 National Organization for Rare Disorders, Inc.
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