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Trisomy 21 (Down Syndrome)

 

This page has been automatically translated from English. MSDH has not reviewed this translation and is not responsible for any inaccuracies.

Trisomy 21, known as Down syndrome, is a genetic disorder resulting from genetic errors on the 21st chromosome. Down syndrome causes a range of intellectual impairments and developmental delays as well as health conditions.

Down syndrome is the most common Trisomy. Although most trisomies are due to random errors, mothers over 35 years of age have an increased risk of having a child with Down syndrome. Down syndrome occurs in approximately 1 in 700 live births, or about 6,000 babies every year.

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About Down Syndrome

Impact on Development

Some children will have three copies of chromosome 21 in all of their cells (Trisomy 21) while others have three copies in only some of their cells (mosaic Down syndrome) or extra parts of chromosome 21 attached to another chromosome (Translocation Down syndrome). The severity of the impact of Trisomy 21 on development will depend upon the number of cells affected.

Children with Down syndrome have distinctive facial features such as a flattened face, a short neck, almond-shaped eyes, and a small mouth with a tongue that appears to stick out. Most will have mild to moderate developmental and intellectual disabilities, although children with Down syndrome will vary considerably in their abilities.

Trisomy 21 is also associated with other health problems. Children with Down syndrome are at an increased risk for having heart defects, digestive problems such as gastroesophageal reflux or celiac disease, and hearing and vision problems. They may also have problems with their thyroid and have increased risk for leukemia or infections.

Clinical Course and Life Expectancy

Children with Down syndrome often have low muscle tone at birth and may experience life-threatening medical conditions, such as those associated with heart defects. Unlike other Trisomy disorders, most children with Down syndrome will live into adulthood. Individuals with Down syndrome with fewer or well-managed health problems can expect to live to be 60 years of age or more.

For More Information

Treatment Options

There is no cure for Down syndrome; however, most individuals can live happy, productive lives. Medical conditions such as heart defects may require surgical correction or management with medication. Therapeutic services, such as speech, occupational, and physical therapy, should be provided as soon as possible to children with Down syndrome to assist their development. Early Intervention services received in infancy will ensure that families have the support needed to promote their child’s development and health and improve their physical and intellectual abilities.

Down Syndrome Resources

Resources for Families

Support Services

Resource Centers or Clearinghouses

National and Local Organizations

Education and Support Programs

Resources for Healthcare Providers

Prenatal Screening

General Resources

Last reviewed on Jun 30, 2021
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