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Down Syndrome - Topic Overview

Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person. But in most cases it is mild to moderate.

Down syndrome is a lifelong condition. But with care and support, most children who have Down syndrome can grow up to have healthy, happy, productive lives.

Down syndrome is caused by a problem with a baby's chromosomes. Normally, a person has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.

Experts don't know the exact cause, but some things increase the chance that you'll have a baby with Down syndrome. These things are called risk factors.

Your risk of having a baby with Down syndrome is higher if:

  • You are older when you get pregnant. Many doctors believe that the risk increases for women age 35 and older.
  • You have a brother or sister who has Down syndrome.
  • You had another baby with Down syndrome.

If you've had a baby with Down syndrome and are planning another pregnancy, you may want to talk to your doctor about genetic counseling.

Most children with Down syndrome have:

  • Distinctive facial features, such as a flat face, small ears, slanting eyes, and a small mouth.
  • A short neck and short arms and legs.
  • Weak muscles and loose joints. Muscle tone usually improves by late childhood.
  • Below-average intelligence.

Many children with Down syndrome are also born with heart, intestine, ear, or breathing problems. These health conditions often lead to other problems, such as airway (respiratory) infections or hearing loss. But most of these problems can be treated.

Your doctor may suggest that you have tests during pregnancy to find out if your baby has Down syndrome. You may decide to have:

Sometimes a baby is diagnosed after birth. A doctor may have a good idea that a baby has Down syndrome based on the way the baby looks and the results of a physical exam. To make sure, the baby's blood will be tested. It may take 2 to 3 weeks to get the test results.

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WebMD Medical Reference from Healthwise

Last Updated: August 07, 2012
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
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