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.
11p deletion syndrome
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 Email: firstname.lastname@example.org
American Kidney Fund, Inc. 6110 Executive Boulevard Suite. 1010 Rockville, MD 20852 USA Tel: (301)881-3052 Fax: (301)881-0898 Tel: (800)638-8299 Email: email@example.com 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: firstname.lastname@example.org 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: email@example.com Internet: http://www.kidney.org
American Cancer Society, Inc. 1599 Clifton Road NE Atlanta, GA 30329 USA Tel: (404)320-3333 Tel: (800)227-2345 TDD: (866)228-4327 Internet: http://www.cancer.org
Glaucoma Research Foundation 490 Post Street Suite 830 San Francisco, CA 94102 Tel: (415)986-3162 Fax: (415)986-3763 Tel: (800)826-6693 Email: firstname.lastname@example.org 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: email@example.com Internet: http://www.nei.nih.gov/
International WAGR Syndrome Association PO Box 392 Allen Park, MI 48101 USA Email: firstname.lastname@example.org Internet: http://www.wagr.org/
Rare Cancer Alliance 1649 North Pacana Way Green Valley, AZ 85614 USA Tel: (520)625-5495 Fax: (615)526-4921 Internet: http://www.rare-cancer.org
MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: email@example.com Internet: http://www.netnet.net/mums/
Aniridia Network 109 Gavin Way Colchester, CO4 9FR UK Tel: (+44) 01206 842 742 Email: firstname.lastname@example.org Internet: http://www.aniridia.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 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 Washington, DC 20036 Tel: (202)659-9709 Fax: (202)974-7999 Tel: (888)793-9355 Internet: http://www.cancersupportcommunity.org/
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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
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Last Updated: 10/22/2010 Copyright 1994, 1999, 2007, 2010 National Organization for Rare Disorders, Inc.
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