(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—This type is called Mosaic Trisomy 21.
- Part of the chromosome breaking off and reattaching to another chromosome—This type is 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.
- Gender—More boys than girls are born with Down syndrome.
- History of a previous child with Down syndrome.
- 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 with loose skin
- Misshaped and/or low set ears
- White spots on the colored part of the eye
- Single skin crease in the palm of the hand
- Excess flexibility in joints
- Sight and hearing problems
- Large and protruding tongue
- Excessive space between the large and second toe
- Vision problems
- Hearing loss
- Heart defects
- Acute leukemia
- Frequent ear infections
- Instability of the back bones at the top of the neck, can result in compression injury of the spinal cord
- Gastrointestinal obstruction
- Hirschsprung disease, celiac disease
- Sleep problems such as blocked airways during sleep, daytime sleepiness, sleep anxiety, and sleep walking
- Increased incidence of dementia in older adults
- Urinary system defects
- High blood pressure in the lungs
- An under-active thyroid
- Slow growth
- Late to sit, walk, and 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
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
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):1532-1534.
Down syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated November 2, 2012. Accessed May 21, 2013.
Down Syndrome. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx. Updated April 3, 2013. Accessed May 21, 2013.
Malone FD, Canick JA, 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.
What is Down syndrome? National Down Syndrome Society website. Available at: http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome. Accessed May 21, 2013.
3/12/2010 DynaMed's Systematic Literature Surveillance http://www.ebscohost.com/dynamed: Carter M, McCaughey E, et al. Sleep problems in a Down syndrome population. Arch Dis Child. 2009;94(4):308-310.
- Reviewer: Rimas Lukas, MD
- Review Date: 01/2015 -
- Update Date: 05/07/2014 -