Each person with Down syndrome is an individual — intellectual and developmental problems range from mild to moderate, and some people are healthy while others have severe health problems such as serious heart defects.
Children with Down syndrome have a distinct facial appearance. Though not all children with Down syndrome have the same features, some of the more common features are:
- Flattened facial features
- Small head
- Short neck
- Protruding tongue
- Upward slanting eyes, unusual for the child's ethnic group
- Unusually shaped or small ears
- Poor muscle tone
- Broad, short hands with a single crease in the palm
- Relatively short fingers and small hands and feet
- Excessive flexibility
- Tiny white spots on the colored part (iris) of the eye called Brushfield spots
- Short height
Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age. In general, developmental milestones, such as sitting and crawling, occur at about twice the age of children without impairment.
Apr. 19, 2014
- What is Down syndrome? National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/. Accessed Nov. 14, 2013.
- Down syndrome fact sheet. National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Accessed Nov. 14, 2013.
- Learning about Down syndrome. National Human Genome Research Institute. http://www.genome.gov/19517824. Accessed Nov. 14 2013.
- Down syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/down-syndrome. Accessed Nov. 14, 2013.
- Facts about Down syndrome. Centers for Disease Control and Prevention. http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html. Accessed Nov. 13, 2013.
- Ostermaier KK. Down syndrome: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed Nov. 14, 2013.
- Messerlian GM, et al. Overview of prenatal screening and diagnosis of Down syndrome. http://www.uptodate.com/home. Accessed Nov. 14, 2013.
- American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins — Obstetrics. ACOG Practice Bulletin No. 77. Screening for fetal chromosomal abnormalities. Obstetrics & Gynecology. 2007;109:217. Reaffirmed 2011.
- Frequently asked questions. Pregnancy FAQ094. Genetic disorders. American College of Obstetricians and Gynecologists. http://www.acog.org/~/media/For%20Patients/faq094.pdf?dmc=1&ts=20131118T2245557486. Accessed Nov. 14, 2013.
- How do health care providers diagnose Down syndrome? Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/diagnosed.aspx. Accessed Nov. 18, 2013.
- Ghidini A. Chorionic villus sampling: Risks, complications, and techniques. http://www.uptodate.com/home. Accessed Dec. 4, 2013.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 5, 2013.
- Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Dec. 22, 2013.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 16, 2014.
- American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstetrics & Gynecology. 2012;120:1532.
- Second trimester: Cordocentesis (percutaneous umbilical blood cord sampling, PUBS). Lab Tests Online. http://labtestsonline.org/understanding/wellness/pregnancy/second-trimester/cordo/. Accessed Jan. 17, 2014.