Down Syndrome

What is Down Syndrome?

Normally, a healthy embryo has 23 pairs of chromosomes in its cells—one copy from the egg and one copy from the sperm. However, Down syndrome can occur if something goes wrong with chromosome 21 before a child is born. This genetic condition causes excessive genetic material and an extra chromosome.

This excessive genetic material can cause children with Down syndrome to develop certain facial characteristics and to have intellectual disabilities—although the degree of disability can range on a spectrum from mild to moderate. Expectant mothers can get a blood test or an ultrasound during the first or second trimester to have a good indication whether or not their child will have Down syndrome. Those who get pregnant when they are older are at an increased risk for having a child with this condition, as well as those who have any family members with it.

What are the Symptoms of Down Syndrome?

Children with Down syndrome have similar facial characteristics, such as slanted eyes, Brushfield’s spots (white-grayish spots on irises), small ears and mouths, and flatter facial profiles. Their muscle tone may be weak, and they may have a shorter neck and shorter limbs. Children also have developmental delays and learning disabilities. Some children are born with respiratory, intestinal, and heart difficulties.

How is Down Syndrome Treated?

There is no cure for Down syndrome, but if treated early, children can have a high quality of life. For instance, many of the respiratory, intestinal, and heart difficulties associated with this syndrome can be greatly improved with early doctor visits and recommended medications. Regular doctor visits are vital to test for continuing problems, such as those with the thyroid, eyes, ears, etc.

Physical, speech, and occupational therapies may be required to help children with Down syndrome adjust to adolescence and adulthood so they can ideally live more independent lifestyles. Some patients with this condition have difficulty handling emotional issues or social situations and may need further therapy.

Last Reviewed:
September 13, 2016
Last Updated:
September 06, 2017