(DS; Trisomy 21)
by Cynthia M. Johnson, MA
Down syndrome is a genetic problem that can cause birth defects, problems learning, other health issues. There are three types:
Down syndrome is a problem with chromosome 21. Each type of Down syndrome has its own genetic change:
Mothers who are older than 35 years of age are at higher risk. Translocation is more common in people who have other family members with it.
Babies born with Down syndrome may have:
A person will also have problems with thinking and learning. They are also at risk for other problems, such as:
The doctor may suspect Down syndrome based on a child's features at birth. A blood test will be done to confirm it.
Down syndrome may be suspected before birth using prenatal screenings, such as:
The diagnosis can be confirmed before birth by testing a baby's DNA. This can be done with
There is no cure for Down syndrome. Young children and their families may benefit from early intervention. Older children will need special education services. Most adults go on to lead active lives. Some people with Down syndrome live with family. Others live with friends or on their own.
Children and adults may also benefit from:
A person's medical team will also need to watch for signs of related issues, such as heart problems and hearing loss.
There are no known guidelines to prevent Down syndrome.
National Down Syndrome Congress
National Down Syndrome Society
Canadian Down Syndrome Society
Bull MJ, Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011 Aug;128(2):393-406full-text, correction can be found in Pediatrics 2011 Dec;128(6):1212.
Down syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/down-syndrome . Updated March 17, 2017. Accessed April 6, 2020.
Down Syndrome. National Institute of Child Health and Human Development website. Available at:
...(Click grey area to select URL)
Updated June 21, 2018. Accessed April 6, 2020.
Kazemi M, Salehi M, Kheirollahi M. Down syndrome: current status, challenges, and future perspectives. Int J Mol Cell Med. 2016;5(3):125-33.
Last reviewed February 2020 by EBSCO Medical Review Board Rimas Lukas, MD
Last Updated: 4/6/2020
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