* Not a rare disease
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.
- Family Village has a list of organizations and links for Down syndrome.
- 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. Click on the link to view this information.
- The National Dissemination Center for Children with Disabilities provides information on Down syndrome.
In Depth 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.
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.