Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Trisomy 21
  • Down's syndrome
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Home > Genetic & Rare Diseases Information Center (GARD) > Down syndrome

* This condition is not a rare disease. It is a condition about which the GARD Information Center has received a question.

Down syndrome *
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Down syndrome was named after John Langdon Down, the first physician to identify the syndrome.  It is the most frequent genetic cause of mild to moderate mental retardation.[1]  Down syndrome is a chromosomal disorder that is caused by the presence of an additional chromosome 21, and is also known as trisomy 21. Individuals with Down syndrome have three copies of chromosome 21, instead of the usual two copies.

References
  1. Down syndrome. Genetics Home Reference Web site. 2005 Available at: http://ghr.nlm.nih.gov/condition=downsyndrome . Accessed October 9, 2007.

Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Down syndrome click on the boxes below:
More Detailed Information NLM Gateway Support Groups Clinical Trials & Research
 
More Detailed Information (Found 8 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • Family Village is a global community that integrates information, resources, and communication opportunities on the Internet for persons with cognitive and other disabilities, for their families, and for those who provide services and support. A resource page on Down syndrome is available at the following URL:
      http://www.familyvillage.wisc.edu/lib_down.htm
    • Genetics Home Reference (GHR) contains a condition summary on Down syndrome. Click on the link to go to GHR and review this summary.
    • The March of Dimes offer a fact sheet about Down syndrome at the following URL: http://www.marchofdimes.com/printableArticles/4439_1214.asp


      1275 Mamaroneck Avenue
      White Plains, NY 10605
      Phone: 914-997-4488
      Web site: http://www.modimes.org/
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • The National Dissemination Center for Children with Disabilities offers a publication about Down syndrome at the following URL:
      http://www.nichcy.org/pubs/factshe/fs4txt.htm


      P.O. Box 1492
      Washington, DC 20013-1492 Toll-free: 800-695-0285
      Phone: 202-884-8441
      Web site: http://www.nichcy.org/
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Down syndrome. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Down syndrome. Click on the link to view a sample search on this topic.
    • The National Institute of Child Health and Human Development (NICHD) Clearinghouse provides this and more detailed information on Down syndrome and on other topics related to the health of children, adults, and families. You can also access this information online using the following URL:
      http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm  


      PO Box 3006
      Rockville, MD 20847
      Toll free:  800-370-2943
      Fax: 301-984-1473
      Email: NICHDClearinghouse@mail.nih.gov
      Web site:  http://www.nichd.nih.gov/
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 10 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

    • Family Village
    • Down Syndrome: Health Issues
      Information for Parents and Professionals
      by Len Leshin, M.D., F.A.A.P.
      http://www.ds-health.com/
    • National Down Syndrome Congress
      1370 Center Drive, Suite 102
      Atlanta, GA 30338
      Toll-free: 800-232-NDSC (800-232-6372)
      Phone: 770-604-9500
      Email: info@ndsccenter.org
      Web site:http://www.ndsccenter.org
    • National Down Syndrome Society
      666 Broadway
      New York, NY 10012
      Toll-free: 800-221-4602
      Fax: 212-979-2873
      Email: info@ndss.org
      Web site:http://www.ndss.org
    • The DS Health Issues Web site provides a list of international clinics for individuals with Down syndrome.


      Information for Parents and Professionals
      by Len Leshin, M.D., F.A.A.P.
      http://www.ds-health.com/
  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 1 resource)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Down syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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