(DS; Trisomy 21)
- An extra chromosome—This type is called Trisomy 21. This results from an error in cell division in the egg or sperm.
- Extra chromosomes in some cells—Called Mosaic Trisomy 21.
- Part of the chromosome has broken off and reattached to another chromosome—Called translocation trisomy. In about one third of individuals, the translocation is inherited from a parent.
- Genetics: If either parent is a carrier of Translocation Down syndrome, there is an increased risk.
- Age: The chance of having a child with Down syndrome increases after a woman reaches age 35.
- Sex: More boys than girls are born with Down syndrome.
- History of a previous child with Down syndrome.
- Muscle hypotonia, low muscle tone
- Flat facial features, a somewhat depressed nasal bridge and a small nose
- Upward slanted eyes, small skin folds on the inner corner of the eyes
- Short neck
- Misshaped ears
- White spots on the colored part of the eye
- Single skin crease in the palm of the hand
- Excess flexibility in joints
- Heart defects
- Sight and hearing problems
- Large and protruding tongue
- Fifth finger has one flexion furrow instead of two
- Excessive space between large and second toe
- Vision problems
- Hearing loss
- Heart defects
- Increased incidence of acute leukemia
- Frequent ear infections and increased susceptibility to infection in general
- Gastrointestinal obstruction (imperforate anus and similar problems)
- Esophageal atresia or duodenal atresia
- Sleep problems (eg, blocked airways during sleep, daytime sleepiness, sleep anxiety, sleep walking)
- Increased incidence of dementia in older ages
- Instability of the back bones at the top of the neck, can result in compression injury of the spinal cord
- Urinary system defects
- High blood pressure in the lungs
- An under-active thyroid (hypothyroidism)
- Slow growth
- Late to sit, walk, toilet train
- Speech problems
- Emotional problems
- Triple screen (Alpha-fetoprotein Plus)
- Quadruple screen
- Cell-Free Fetal DNA Testing
- Chorionic villus sampling (CVS)—Usually done between 10 and 12 weeks
- Amniocentesis—Usually done between 12 and 20 weeks of gestation
- Percutaneous umbilical blood sampling (PUBS)—Usually done after 20 weeks
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- School programs designed to meet the child's special needs.
- Mainstreaming children into regular public school classes (with additional support as needed)—In children who have accomplished academic milestones
National Down Syndrome Congress http://www.ndsccenter.org/
National Down Syndrome Society http://www.ndss.org/
Canadian Down Syndrome Society http://www.cdss.ca/
Health Canada http://www.hc-sc.gc.ca/
Behrman RE, Kliegman R, Jenson HB. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders; 2007.
Benn P, et al. Prenatal detection of Down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn. 2012;32:1-2.
Committee opinion No. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120(6):1532-4.
Down syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/. Updated September 14, 2012. Accessed September 20, 2012.
Ferri F, ed. Ferri’s Clinical Advisor 2010. Philadelphia, PA: Mosby Elsevier; 2009.
Malone FD, Canick JA, Ball RH, et al. First- and second-trimester evaluation of risk (FASTER) research consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353:2001-2011.
National Down Syndrome Society. Associated conditions. National Down Syndrome Society website. Available at: http://www.ndss.org/Down-Syndrome/. Accessed September 20, 2012.
National Institute of Child Health and Human Development. Down Syndrome. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/Down%5FSyndrome.cfm. Accessed July 28, 2008.
3/12/2010 DynaMed's Systematic Literature Surveillance http://www.ebscohost.com/dynamed/what.php: Carter M, McCaughey E, Annaz D, Hill CM. Sleep problems in a Down syndrome population. Arch Dis Child. 2009;94(4):308-310.
- Reviewer: Rimas Lukas, MD
- Review Date: 09/2012 -
- Update Date: 02/05/2013 -