Down Syndrome - Genetics Home Reference

Down syndrome is a genetic disorder that causes mental retardation and other problems. The condition varies in severity, so developmental problems may range from mild to serious.

Down syndrome is the most common genetic cause of severe learning disabilities in children, occurring in one in every 700 infants. Every year, as many as 6,000 babies are born with Down syndrome in the United States. The condition is named after John Langdon Down, the doctor who first identified the syndrome.

There's no medical cure for this condition. But increased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Down syndrome.

Causes and Risk Factors

Down syndrome is one of the most common genetic birth defects. It affects all races and economic levels equally. Approximately 1 in 800 to 1 in 1,000 babies are born with the disorder. Life expectancy among adults with Down syndrome is about 55 years, though this varies.

Symptoms

A child with Down syndrome may have eyes that slant upward and small ears that may fold over a little at the top. The mouth may be small, making the tongue appear large. The nose also may be small, with a flattened nasal bridge. Some babies with Down syndrome have short necks and small hands with short fingers.

The child with Down syndrome is often short and has unusual looseness of the joints. Most children with Down syndrome will have some, but not all, of these features.

The degree of mental retardation varies widely from mild to moderate to severe. However, most fall within the mild to moderate range, and studies suggest that, with proper training, less than 10 percent will be severely mentally retarded.

Diagnosed
Tests (such as amniocentesis and chorionic villus sampling) can be done before birth to find out if a baby has Down syndrome. Tissue and fluid in the womb around the baby can be checked for the extra chromosome. After birth, if the baby has any of the physical signs or birth defects of Down syndrome, the baby's blood can be tested to check for the extra chromosome.

What's the treatment?

There's no cure, but treatment of any accompanying health problems and support for learning difficulties allows many people with the syndrome to lead relatively normal and semi-independent lives. Others, however, need full-time care. Many people with the condition live well into adulthood, with an average life expectancy of around 60 years.

Physiotherapy, speech therapy and special educational programmes have an important role to play, while specific medical conditions associated with the syndrome are treated as appropriate.

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