Down syndrome

Genetic and Rare Diseases Information Center (GARD)

Trisomy 21
Down's syndrome

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* 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 is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and poor muscle tone in infancy. The degree of intellectual disability varies, but it is usually mild to moderate. People with Down syndrome may be born with a variety of health concerns, including heart defects or digestive abnormalities. In addition, they have an increased risk of developing gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia and Alzheimer disease. Down syndrome is caused by the presence of extra material from chromosome 21. Most individuals with Down syndrome have three copies of chromosome 21, instead of the usual two copies.^[1] Researchers have identified genes that cause the characteristics of Down syndrome and are working to enhance their basic understanding of Down syndrome to continue to improve on the interventions and treatment strategies.^[2]

More about Down syndrome

Información en español acerca Síndrome de Down

References

Down syndrome. Genetics Home Reference (GHR). 2008 Available at: http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed March 9, 2012.
Down syndrome. March of Dimes. 2009 Available at: http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html. Accessed March 9, 2012.

Questions & Answers (Found 6 Questions)

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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More Detailed Information (Found 12 resources) General \| Management Guidelines \| Resources for Kids
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. General The March of Dimes offers a fact sheet about Down syndrome. Click on March of Dimes to view the information page. The National Dissemination Center for Children with Disabilities provides information on Down syndrome. Click on the link above to view the information page. 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. Click on the link above to view the Family Village page on Down syndrome. The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic. The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic. Genetics Home Reference (GHR) contains information on Down syndrome. Click on the link to go to GHR and review the information. MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information. 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. Management Guidelines Part I: Clinical Practice Guidelines with Down Syndrome From Birth to 12 Years. Van Cleve SN, Cohen WI. J Pediatr Health Care. 2006;20(1):47-54. Health Supervision for Children with Down Syndrome. Committee on Genetics. Pediatrics. Vol. 107 No. 2 February 2001. Resources for Kids The Family Village Web site has a state by state list of summer camps for kids and teens with a variety of medical conditions, including cancer, skin conditions, bleeding disorders, diabetes, physical or intellectual disability and others. Click on Family Village to search for summer camps.

More Detailed Information (Found 12 resources)
General | Management Guidelines | Resources for Kids

Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

General
- The March of Dimes offers a fact sheet about Down syndrome. Click on March of Dimes to view the information page.
- The National Dissemination Center for Children with Disabilities provides information on Down syndrome. Click on the link above to view the information page.
- 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. Click on the link above to view the Family Village page on Down syndrome.
- The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic.
- The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
- Genetics Home Reference (GHR) contains information on Down syndrome. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- 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.
Management Guidelines
- Part I: Clinical Practice Guidelines with Down Syndrome From Birth to 12 Years. Van Cleve SN, Cohen WI. J Pediatr Health Care. 2006;20(1):47-54.
- Health Supervision for Children with Down Syndrome. Committee on Genetics. Pediatrics. Vol. 107 No. 2 February 2001.
Resources for Kids
- The Family Village Web site has a state by state list of summer camps for kids and teens with a variety of medical conditions, including cancer, skin conditions, bleeding disorders, diabetes, physical or intellectual disability and others. Click on Family Village to search for summer camps.

Organizations (Found 14 resources) Disease-Specific Organizations \| Umbrella Organizations \| Social Networking Websites
Groups providing a wide range of services, supportive resources, and information. Disease-Specific Organizations Down Syndrome: Health Issues News and Information for Parents and Professionals Web site: http://www.ds-health.com/ National Association for Down Syndrome P.O. Box 206 Wilmette, IL 60091 Telephone: 630-325-9112 E-mail: info@nads.org Web site: http://www.nads.org Down Syndrome Research and Treatment Foundation 755 Page Mill Road, Suite A-200 Palo Alto, CA 94304 Phone: (888) 731-5557 Fax: (650) 352-9003 Email: dsrtf@dsrtf.org Web: http://www.dsrtf.org/ Canadian Down Syndrome Society 811 - 14th Street NW Calgary Alberta, T2N 2A4 4032708500 Website: http://www.cdss.ca National Down Syndrome Congress 1370 Center Drive, Suite 102 Atlanta, GA 30338 Toll-free: 800-232-NDSC (800-232-6372) Telephone: 770-604-9500 E-mail: 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 E-mail: info@ndss.org Web site: http://www.ndss.org Association for Children with Down Syndrome, Inc. 4 Fern Place Plainview, NY 11803 Telephone: 516-933-4700 Web site: http://www.acds.org Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Dissemination Center for Children with Disabilities 1825 Connecticut Ave NW, Suite 700 Washington, DC 20009 Toll free: 1-800-695-0285 Telephone: 201-884-8200 TTY: 1-800-695-0285 Fax: 202-884-8441 E-mail: nichcy@fhi360.org Web site: http://www.nichcy.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Networking Websites DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ 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.

Organizations (Found 14 resources)
Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites

Groups providing a wide range of services, supportive resources, and information.

Disease-Specific Organizations
- Down Syndrome: Health Issues
  News and Information for Parents and Professionals
  Web site: http://www.ds-health.com/
- National Association for Down Syndrome
  P.O. Box 206
  Wilmette, IL 60091
  Telephone: 630-325-9112
  E-mail: info@nads.org
  Web site: http://www.nads.org
- Down Syndrome Research and Treatment Foundation
  755 Page Mill Road, Suite A-200
  Palo Alto, CA 94304
  Phone: (888) 731-5557
  Fax: (650) 352-9003
  Email: dsrtf@dsrtf.org
  Web: http://www.dsrtf.org/
- Canadian Down Syndrome Society
  811 - 14th Street NW
  Calgary
  Alberta, T2N 2A4
  4032708500
  Website: http://www.cdss.ca
- National Down Syndrome Congress
  1370 Center Drive, Suite 102
  Atlanta, GA 30338
  Toll-free: 800-232-NDSC (800-232-6372)
  Telephone: 770-604-9500
  E-mail: 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
  E-mail: info@ndss.org
  Web site: http://www.ndss.org
- Association for Children with Down Syndrome, Inc.
  4 Fern Place
  Plainview, NY 11803
  Telephone: 516-933-4700
  Web site: http://www.acds.org
Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Dissemination Center for Children with Disabilities
  1825 Connecticut Ave NW, Suite 700
  Washington, DC 20009
  Toll free: 1-800-695-0285
  Telephone: 201-884-8200
  TTY: 1-800-695-0285
  Fax: 202-884-8441
  E-mail: nichcy@fhi360.org
  Web site: http://www.nichcy.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Networking Websites
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- 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.

Services (Found 7 resources) Specialty Clinics/Treatment Centers \| Healthcare Professional Online Directory \| Genetic Services \| Parent Resources
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more. Specialty Clinics/Treatment Centers Down Syndrome: Health Issues, an online resource created by Len Leshin, M.D., F.A.A.P., lists the names of clinics both in and outside the United States that are run by doctors with a special interest in Down syndrome. Click on the links below to access the names and contact information for these clinics. United States DS clinics International DS clinics The National Down Syndrome Congress provides a list of DS clinics in the United States. To view the names and contact information for these clinics, click on the link. Healthcare Professional Online Directory The National Down Syndrome Society (NDSS) has created an online Clinical Provider Database. To access the database, please click on the link. Genetic Services You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community: GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics. The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. The American College of Medical Genetics has a searchable database of US genetics clinics. The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. Parent Resources National Dissemination Center for Children with Disabilities 1825 Connecticut Ave NW, Suite 700 Washington, DC 20009 Toll free: 1-800-695-0285 Telephone: 201-884-8200 TTY: 1-800-695-0285 Fax: 202-884-8441 E-mail: nichcy@fhi360.org Web site: http://www.nichcy.org The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Services (Found 7 resources)
Specialty Clinics/Treatment Centers | Healthcare Professional Online Directory | Genetic Services | Parent Resources

Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

- Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
Specialty Clinics/Treatment Centers
- Down Syndrome: Health Issues, an online resource created by Len Leshin, M.D., F.A.A.P., lists the names of clinics both in and outside the United States that are run by doctors with a special interest in Down syndrome. Click on the links below to access the names and contact information for these clinics.
  
  United States DS clinics
  International DS clinics
- The National Down Syndrome Congress provides a list of DS clinics in the United States. To view the names and contact information for these clinics, click on the link.
Healthcare Professional Online Directory
- The National Down Syndrome Society (NDSS) has created an online Clinical Provider Database. To access the database, please click on the link.
Genetic Services
- You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
  - GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
  - The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
  - The American College of Medical Genetics has a searchable database of US genetics clinics.
  - The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
  - The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Parent Resources
- National Dissemination Center for Children with Disabilities
  1825 Connecticut Ave NW, Suite 700
  Washington, DC 20009
  Toll free: 1-800-695-0285
  Telephone: 201-884-8200
  TTY: 1-800-695-0285
  Fax: 202-884-8441
  E-mail: nichcy@fhi360.org
  Web site: http://www.nichcy.org
- The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Clinical Trials & Research (Found 3 resources)
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. NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate. Patient Registry ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

Clinical Trials & Research (Found 3 resources)

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.
- NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
Patient Registry
- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.