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Health information Genetic and Rare Diseases Information Center Information about genetic conditions and rare diseases Additional NIH Resources National Institutes of Health Educational resources Information pages Patient support For patients and families Gene Tests DNA test labs Genetic Tools Teaching cases ClinicalTrials.gov Research studies PubMed Recent literature Online Books Medical and science texts OMIM Genetic disorder catalog Genetic Conditions Down syndrome On this page: Genetic changes Inheritance Treatment ... Glossary definitions Reviewed June 2008 What is Down syndrome? Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and poor muscle tone (hypotonia) 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 birth defects. About half of all affected children have a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common. Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, about 1 percent of children with Down syndrome develop cancer of blood-forming cells (leukemia). | |
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