Down syndrome is a problem with chromosome 21. Each type of Down syndrome has its own genetic change:
- Trisomy 21 is when there is an extra copy of chromosome 21 because of a problem that happens when cells divided in the egg or sperm
- Translocation is an inherited type that happens when a part of chromosome 21 breaks off and reattaches to another chromosome
- Mosaicism is an extra copy of the chromosome in only some cells
Babies born with Down syndrome may have:
- Weak muscles
- A short neck with loose skin at the back
- Flat facial features
- A small head, ears, and mouth
- Eyes that slant up
- White spots on the colored part of the eye
- Short hands with short fingers
- A single skin line in the palm of the hand
- More space between the big toe and second toe
- A tongue that sticks out
A person will also have problems with thinking and learning. They are also at risk for other problems, such as:
- Birth defects, such as heart, spine, and lung problems
- Hearing loss
- Blocked airways during sleep
- An under-active thyroid
The doctor may suspect Down syndrome based on a child's features at birth. A blood test will be done to confirm it.
Down syndrome may be suspected before birth using prenatal screenings, such as:
- Blood tests of the mother to look for markers of Down syndrome
- An ultrasound to look for features in the baby's neck
The diagnosis can be confirmed before birth by testing a baby's DNA. This can be done with
- Amniocentesis to test the fluid in a mother's womb
- Chorionic villus sampling (CVS) to test tissue from the placenta
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There is no cure for Down syndrome. Young children and their families may benefit from early intervention. Older children will need special education services. Most adults go on to lead active lives. Some people with Down syndrome live with family. Others live with friends or on their own.
Children and adults may also benefit from:
- Speech therapy
- Physical therapy
- Occupational therapy to help with activities of daily living
- Mental health counseling
A person's medical team will also need to watch for signs of related issues, such as heart problems and hearing loss.
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
Edits to original content made by Denver Health.
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