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Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes.

Individuals with Down syndrome possess varying degrees of cognitive delays, from very mild to severe. Most people with Down syndrome have cognitive delays that are mild to moderate.

Frequently Asked Questions What causes Down syndrome? ... Are babies born with Down syndrome only born to older mothers? ... Are there levels or degrees of Down syndrome? ... Do people with Down syndrome all look alike? ... Are people with Down syndrome always happy? ... Can people with Down syndrome live independently?

There are three types of Down syndrome. People often can't tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar. Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.

Down syndrome symptoms vary from person to person and can range from mild to severe. No matter how severe the condition is, people with Down syndrome have a widely-recognized appearance.

Mosaic Down syndrome occurs in about 2 percent of all Down syndrome cases. People with mosaic Down syndrome often, but not always, have fewer symptoms of Down syndrome because some cells are normal.

Amniocentesis, chorionic villus sampling (CVS) and ultrasound are the three primary procedures for diagnostic testing. Amniocentesis is the test we most commonly use to identify chromosomal problems, such as Down syndrome.

Doctors and researchers use the term “mosaicism” to describe a mix of cells in the body. While people with the more common trisomy 21 Down syndrome have an extra chromosome in all of their cells, people with mosaic Down syndrome only have the extra chromosome in some cells.