Down syndrome is a disorder of the genes. It can cause birth defects and other medical problems. There are 3 types of Down syndrome:
Mosaic Trisomy 21
Chromosomes hold your DNA. Your DNA hold the plans for how your body grows and functions. There are 23 pairs of chromosomes. Down syndrome is a problem with pair 21. There is extra genetic material on pair 21. Each type of Down syndrome has its own genetic change:
Trisomy 21 is caused by:
An extra chromosome
Occurs when the cell divided in the egg or sperm
Mosaic Trisomy 21—extra chromosomes in some cells
Part of the chromosome breaks off and reattaches to another chromosome
Can be inherited from a parent
Factors that increase the chance for Down syndrome include:
Genetics—if a parent is a carrier of Translocation Down syndrome
Mother is 35 years and older during pregnancy
Sibling with Down syndrome
Infants born with Down syndrome may have some or all of the following physical features:
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
Overall health will vary from person to person. Talents, abilities, and pace of development will vary too. People with Down syndrome may be born with or develop:
There is no cure for Down syndrome. However, most people with Down syndrome can be an active part of the community. This includes school, work, and recreation. Some people with Down syndrome live with family. Others live with friends or on their own.
Support care can help with developmental challenges. Medical care may be needed for other complications.
Infants and Children
Infants with Down syndrome may take longer to feed. A child with Down syndrome will also start to talk, walk, and play later than others. Your medical team will help to check milestones for your child. Living at home and support therapy will help a child reach their full potential.
Medical care for related issues, like heart valves, may also be needed. Some may require surgery.
Learning opportunities may be increased with:
School programs designed to meet the child's unique needs.
Mainstreaming children into regular public school classes. Additional support can be added as needed.
Therapy needs can vary. Options include:
Speech therapy—to help speech development
Physical therapy—to assist in walking and overall conditioning
Occupational therapy—fine motor activity to help with activities of daily living
Counseling—mental health support
Look for support services for you child. This may include:
Early learning programs for children
Transportation and education opportunities for adults
Work skill training and employment support
Life coaching and life skills training
Support groups can also be helpful for caretaker and person with Down syndrome.
There are no known steps to prevent Down syndrome.
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.
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 January 1, 2017. Accessed February 14, 2018.
Kazemi M, Salehi M, Kheirollahi M. Down syndrome: current status, challenges, and future perspectives. Int J Mol Cell Med. 2016;5(3):125-33.
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.
Last reviewed March 2018 by
EBSCO Medical Review Board
Rimas Lukas, MD
Last Updated: 5/7/2014
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