Children's Hospital Colorado
Sie Center for Down Syndrome

Pediatric Down Syndrome

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What is Down syndrome?

Down syndrome is a genetic condition caused by an extra copy of chromosome 21. This extra chromosome can create physical and developmental differences as a person grows. Every person experiences Down syndrome differently and its effects are lifelong. Down syndrome is often associated with other health conditions, such as heart, breathing and sleep issues.

How common is Down syndrome?

Down syndrome is the most common neurodevelopmental disorder based on a genetic cause. It occurs in 1 out of every 750 to 1,100 live births.

What causes Down syndrome?

Down syndrome is a genetic disorder.

Most people have 46 total chromosomes (23 pairs) in every cell in their body. One chromosome of each pair comes from the father, and one chromosome of each pair comes from the mother.

In Down syndrome, uneven cell division leads to an extra full or partial copy of chromosome 21. This extra chromosome copy causes differences in how the brain and body systems develop.

Who gets Down syndrome?

Down syndrome can occur in anyone. The risk of Down syndrome increases with the age of the pregnant parent, especially after age 35.

What are the types of Down syndrome?

There are three genetic types of Down syndrome. Each type impacts the body's chromosomes, which tell our body how to grow.

  • Trisomy 21, or nondisjunction, accounts for 95% of Down syndrome cases. It happens when an extra copy of chromosome 21 is present in all the body’s cells.
  • Translocation Down syndrome occurs in about 4% of babies with Down Syndrome. In translocation Down syndrome, a part of the 21st chromosome becomes attached to another chromosome, resulting in an extra copy of genetic material. It is the only type of Down syndrome that can be inherited (passed down) from a parent.
  • Mosaic Down syndrome occurs in 1% of babies with Down syndrome. It happens when an extra copy of chromosome 21 is present in some, but not all, of the body’s cells. This type of Down syndrome results from a random event shortly after the egg and sperm join. When cells are dividing, some cells receive an extra copy of chromosome 21.

What to expect about health and development

Children with Down syndrome experience cognitive delays. However, the effect varies greatly by individual and does not take away from the many strengths and talents of each child.

Children with Down syndrome are also at increased risk of certain medical conditions such as congenital heart defects, respiratory and sleep difficulties, vision and hearing problems, constipation and thyroid conditions.

New treatment advancements, along with strong educational programs, a stimulating home environment, quality healthcare and positive support help people with Down syndrome lead fulfilling and meaningful lives.

Next steps

Get to know our pediatric experts.

Dee Daniels, CPNP-PC

Dee Daniels, CPNP-PC

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Emily DeBoer, MD

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Elise Sannar, MD

Elise Sannar, MD

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