Down Syndrome

Down syndrome, also known as Trisomy 21, is a common genetic disorder. Down syndrome occurs when a child has an extra set of genetic material, chromosome 21, in addition to the typical 46 chromosomes. The additional chromosome results in the physical features and developmental delays seen in children with Down syndrome.

Down syndrome is a genetic condition that affects one in every 700 infants, nearly 6,000 births in the United States each year. Down syndrome is the leading cause of learning disabilities and developmental delays in children. Down syndrome cannot be cured or prevented, but it can be detected before a child is born.

Causes of Down Syndrome

Down syndrome is the result of abnormal cell division during development, called nondisjunction. Down syndrome occurs at conception and does not result from anything that may occur during a pregnancy. While there are different types of Down syndrome, 90 percent of cases are caused by Trisomy 21, which involves three copies of chromosome 21, instead of the usual two copies.

Risks Factors of Down Syndrome

Women over the age of 35, or those who have already given birth to a child with Down syndrome, are at a greater risk of their child being born with Down syndrome.

Symptoms of Down Syndrome

Down syndrome causes physical features that may include:

  • Flattened facial features
  • Upward slanting eyes
  • Protruding tongue
  • Small head
  • Wide, short hands
  • Short fingers
  • Palm with a single crease

Aside from its defining physical features, Down syndrome also causes mild to moderate mental retardation and a slow growth and development rate. Nearly half of the children born with Down syndrome also have a congenital heart defect. This condition may also increase the risk of leukemia, dementia, obesity and other problems.

Treatment for Down Syndrome

Early treatment can help children with Down syndrome achieve their highest level of success. Depending on the needs and the condition, children with Down syndrome benefit from a varied team approach of doctors that include cardiology, gastroenterology, a developmental pediatrician, speech and physical therapists and other specialists.

Additional Resources