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Diseases

Genetic and Rare Diseases Information Center (GARD)

Down syndrome

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* Not a rare disease
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Other Names for this Disease
  • Trisomy 21
  • Down's syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities. They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited.[1] Treatment focuses on the specific symptoms in each person.
Last updated: 4/15/2015

References

  1. Down syndrome. Genetics Home Reference (GHR). June, 2012; http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed 7/28/2015.
  2. Down syndrome. March of Dimes. July, 2009; http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html. Accessed 7/28/2015.
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Basic Information

  • 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. This website is maintained by the National Library of Medicine.
  • March of Dimes has a factsheet on Down syndrome.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manual provides information on this condition for patients and caregivers. 
  • The National Dissemination Center for Children with Disabilities provides information on Down syndrome.
  • A Positive Exposure program called FRAME has an educational film about Down syndrome that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.
Other Names for this Disease
  • Trisomy 21
  • Down's syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.