What Is It?

Down syndrome is a disorder caused by an abnormality of the chromosomes — the pieces of DNA containing the blueprint for the human body. Normally a person has two copies of each chromosome, but a person with Down syndrome has three copies of chromosome 21. The condition also is called trisomy 21. In a few cases, the extra copy is attached to another chromosome (translocation), or found in only some of the person’s cells (mosaicism). The extra DNA produces the physical and mental characteristics of Down syndrome, which include a small head that is flattened in the back; slanted eyes; extra skin folds at the corners of the eyes; small ears, nose and mouth; short stature; small hands and feet; and some degree of mental disability. Between 3,000 and 5,000 children with Down syndrome are born each year in the United States.

In addition to the characteristic physical features and decreased mental abilities, other health problems frequently are seen in people with Down syndrome. These include:

• Hearing deficits
• Heart problems
• Intestinal abnormalities
• Eye problems
• Low levels of thyroid hormone
• Skeletal problems such as joint instability
• Poor weight gain in infants

People with Down syndrome develop leukemia more often than those without the disorder, and they are at increased risk of infections, problems with the immune system, skin disorders, and seizures.

Infants with Down syndrome usually develop more slowly than other children of the same age, although a wide variation is seen. Language development is typically much slower, as is motor development. For example, most toddlers walk between 12 and 14 months of age, but toddlers with Down syndrome walk between 15 and 36 months.

Down syndrome frequently is suspected at birth based on physical appearance. The diagnosis usually is confirmed by a blood test to examine the chromosomes. Additional testing may be done, including chest X-rays, echocardiography and an electrocardiogram, to check for the presence of cardiac abnormalities. Sometimes X-ray studies of the gastrointestinal tract are done as well.

In some cases, Down syndrome is detected during pregnancy with the use of a blood test that measures the levels of three chemicals (a “triple-screen” test) in a pregnant woman’s blood. If these results are abnormal, further tests can be done to help diagnose Down syndrome.

Down syndrome is a genetic disorder due to the presence of an extra chromosome in each cell. This condition continues throughout life.

There is no way to prevent the chromosome abnormality that causes Down syndrome. However, the chance of having a child with Down syndrome increases as the age of the mother increases. Older mothers usually are offered additional screening tests to detect Down syndrome in the fetus. Some researchers have suggested that an older father also increases the risk.

Parents who already have a child with Down syndrome are more likely to have another child with the same problem in future pregnancies. Genetic testing can help to quantify the risk.

There is no treatment to reverse the genetic abnormality that causes Down syndrome. However, many of the associated medical and developmental conditions can be addressed, enhancing the person’s quality of life, improving developmental possibilities, and increasing his or her life expectancy.

Many health care professionals may be involved in assessing and planning the course of treatment for a child with Down syndrome. Surgery may be required for cardiac or gastrointestinal abnormalities.

Physical therapy and integrated special education services help children with Down syndrome to make the most of their abilities and reach their potential. Children with Down syndrome usually respond very well to sensory stimulation, exercises to help their muscle control, and activities to assist their cognitive development. School helps children with Down syndrome to learn social, academic and physical skills that may allow them to attain a very high level of functioning and independence.

Most cases of Down syndrome are detected early in life. Call your doctor if you suspect that your child has Down syndrome that has not been diagnosed or if you have questions about your risk of having a child with Down syndrome.

The prognosis for a person with Down syndrome varies with the accompanying medical and developmental conditions. The outlook continues to improve, as educators and health care professionals recognize the importance of early interventions to promote both health and development. Advances in medical treatments have greatly improved the life expectancy for people with Down syndrome, with the majority living past age 55.

Diseases and Conditions Center

All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.