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Down Syndrome


What is Down syndrome?

  • Down syndrome, also called Down's syndrome, is a condition caused by a problem in the number of chromosomes. Chromosomes are like packages in the body that hold all the genes. Genes are little pieces of information that tell your body what to do or what to make. Down syndrome happens when your child has an extra chromosome number 21. This is a condition your baby is born with and will have for the rest of his life. It often causes mental retardation (problems with learning) and other health problems. Each child who has Down syndrome may be affected differently by the condition.

  • Normally, almost every cell in a person's body has 46 chromosomes, arranged in 23 pairs (two of each). The sex cells, such as the sperm and egg, have only 23 single chromosomes each. At the time of fertilization (when the sperm and egg meet), 23 single chromosomes from each parent join together. Once the egg and sperm join, cells begin to divide and form new cells, later developing into your child. With Down syndrome, a mistake happens during or right after fertilization causing three copies of chromosome number 21. This is also called Trisomy 21.
    Picture of the chromosome difference in children with Down Syndrome

What causes Down syndrome? You did not do anything to cause your child to have Down syndrome. Down syndrome may affect anyone. The risk of having a child with Down syndrome increases as a women's age increases. Your child's Down syndrome may have happened through any of the following:

  • A normal sex cell with one chromosome 21 is joined by an abnormal sex cell with two chromosome 21's.

  • A piece of chromosome 21 breaks off and joins another chromosome pair.

  • A problem occurred after fertilization where a normal cell divides and ends up with more chromosomes than normal.

What are the signs and symptoms of Down syndrome?

  • Face: A child with Down syndrome has upward slanted eyes, and a skin fold at the inner corner may be present. He may have small white spots on the iris (colored part of the eye). The bridge of his nose may be flat. His jaw (chin) is small, and his mouth is usually open, with a large tongue sticking out.

  • Growth and development: A child with Down syndrome may be short for his age, and have learning problems. The child may gain skills such as walking, talking, reading, or writing slower than other children.

  • Hands and feet: A child with Down syndrome has broad hands, with a single deep crease that runs across the middle of the palm. His fingers are usually short with the fifth finger curved in. His toes may also be short, and have a wide gap between the first and second toes.

  • Head and neck: A child with Down syndrome has a small, round head that is slightly flat at the back. There may be more skin than normal at the back of his neck.

  • Muscles: A child with Down syndrome has loose joints, with limp muscles.

  • A child with Down syndrome may also have or develop:

    • Diseases of the blood, such as leukemia.

    • Infections of the eyes, gums, mouth, sinuses, or lungs.

    • Problems with hearing, seeing, breathing, and swallowing.

    • Less than normal development of his heart, bones, kidneys, or other organs.

How is Down syndrome diagnosed? Down syndrome may be diagnosed even before the baby is born. Caregivers may do one or more of the following tests:

  • Amniocentesis: This test checks the baby's cells found in the amniotic fluid. The amniotic fluid is the fluid around the fetus (baby inside the womb). With an ultrasound, caregivers will take a fluid sample using a needle inserted through the skin and uterus. The sample will then be sent to the lab for tests.

  • Blood tests: Different blood tests are done to check if the baby is likely to have Down syndrome.

  • Chorionic villus sampling: This test, also called CVS, checks for problems in the fetus. Using an ultrasound, caregivers take a sample from the placenta (tissue in womb connecting the mother and baby). A thin tube is inserted through the vagina and cervix (bottom part of womb) and into the placenta. Samples may also be collected by putting a thin needle through the abdomen (stomach) and into the placenta. The sample will then be sent to the lab for tests.

  • Fetal ultrasound: This test uses sound waves to show pictures of the fetus. Some jelly-like lotion is placed on the abdomen. A small handle is gently moved through the lotion and across the skin on the abdomen. You can see pictures of the baby on a TV-like screen. Caregivers can learn the age of the baby and see how fast he is growing. The movement, heart rate, and position of the baby can be seen. Caregivers may also be able to see things about the baby that are found with Down syndrome.

Once a baby is born, caregivers often know the baby has Down syndrome just by looking at him. Your child's caregiver may do a special test on your child to make sure of the diagnosis. Karyotyping is a blood test that allows caregivers to look at your child's chromosomes.

How is Down syndrome treated? There is no cure for Down syndrome. Treatment includes helping and encouraging your child use his abilities to the highest level. You may have your child see different caregivers, including specialists that may help his growth and development. You may place him in a special program or school. Treating and controlling other health problems are also important. Your child may have one or more of the following:

  • Aiding devices: These may include hearing aids, respirators, and oxygen.

  • Medicines: Your child may need medicines to treat heart problems, control seizures (convulsions) or fight infections.

  • Therapies: These may include physical, occupational, and speech therapy. A physical therapist helps your child with special exercises. These exercises help make his bones and muscles stronger. An occupational therapist may help your child become better able to take care of himself. Skills, such as bathing, dressing, and eating may also be taught. A speech therapist may work with your child to help him talk or swallow correctly.

  • Surgery: Surgery may be needed to correct medical problems such as heart defects, blocked or incomplete bowel, or bone correction.

How can I take care of my child with Down syndrome? It is important to know that nothing you could have done would have prevented your child's Down syndrome. Do not be ashamed to have a special child with Down syndrome. The following are things you can do as parents to help him cope with his condition:

  • Always take your child to his regular medical appointments: Do not miss your child's medical appointments. Taking your child to his caregiver often will help keep him healthy. There are many medical problems which your child could get at any time in his life. Doing regular exams and tests will help caregivers know if your child has problems that need treatment. In many cases, your child's health may be better if his problems are found and treated early.

  • Always have him vaccinated: Take your child to his caregiver for vaccinations. Since your child may get infections easily, it is important for him to get these shots to protect his health.

  • Educate yourself about your child's condition: Read about Down syndrome. Ask your child's caregivers about the effects of the condition on your child. The more you know about Down syndrome and its problems, the better you can help your child. If you have a Down syndrome child, talk to caregivers before trying to get pregnant with another child.

  • Interact with your child and teach him how to do things: Do all the things you would normally do with any baby or child. Take your child on family outings. Read books and sing to your child. Do activities together that will make your child use his legs, arms, hands, and feet. Do these things over and over again. Put your child in special learning programs. These programs help Down syndrome babies and children develop and learn how to do things.

  • Find support for yourself and your child: There are many families who have a Down syndrome child. Talking to them may help you explore your own feelings. Talk to others about how you are doing, and how your family has adjusted. Ask lots of questions. Talk to caregivers if you feel the burden of caring for your child is too much.

Where can I find support and more information? Having a child with Down syndrome is life-changing for you and your family. Accepting that your child has Down syndrome is hard. You and those close to you may feel confused, angry, sad, afraid, or helpless. As parents, you may blame yourself and think you have done something wrong. These are normal feelings. Talk to your caregivers, family, or friends about your feelings. You may also want to join a support group. Contact the following for more information:

  • American Academy of Pediatrics
    141 Northwest Point Boulevard
    Elk Grove Village , IL 60007-1098
    Phone: 1- 847 - 434-4000
    Web Address:
  • National Down Syndrome Congress
    1370 Center Drive, Ste 102
    Atlanta, GA , 30338
    Phone: 1- 770 - 604-9500
    Phone: 1- 800 - 232-6372
    Web Address:
  • National Down Syndrome Society
    666 Broadway
    New York , NY 10012
    Web Address:


You have the right to help plan your child's care. Learn about your child's health condition and how it may be treated. Discuss treatment options with your child's caregivers to decide what care you want for your child.

© 2013 Truven Health Analytics Inc. Information is for End User's use only and may not be sold, redistributed or otherwise used for commercial purposes. All illustrations and images included in CareNotes® are the copyrighted property of the Blausen Databases or Truven Health Analytics.

The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.

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