Other Names for this Disease
- Down's syndrome
- Trisomy 21
Down syndrome is a chromosome condition that is 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 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 having three copies of chromosome 21, instead of the usual two copies. This condition occurs in about 1 in 800 newborns. Researchers have identified genes that cause some of the features of Down syndrome and are working to learn more in order to improve treatment options.
- Down syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed 3/9/2012.
- Down syndrome. March of Dimes. 2009; http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html. Accessed 3/9/2012.
- 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 National Dissemination Center for Children with Disabilities provides information on Down syndrome.
- 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.