Down Syndrome

What is Down syndrome? Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person…

Down Syndrome

Topic Overview

What is Down syndrome?

Down syndrome is a set of
physical and mental traits caused by a
gene problem that happens before birth. Children who have
Down syndrome tend to have certain features, such as a flat face and a short
neck. They also have some degree of
intellectual disability. This
varies from person to person. But in most cases it is mild to moderate.

Down syndrome is a lifelong condition. But with care
and support, children who have Down syndrome can grow up to have healthy,
happy, productive lives.

What causes Down syndrome?

Down syndrome is caused
by a problem with a baby's
chromosomes. Normally, a person has 46 chromosomes. But most
people with Down syndrome have 47 chromosomes. In rare cases, other chromosome
problems cause Down syndrome. Having extra or abnormal chromosomes changes the
way the brain and body develop.

Experts don't know the exact
cause, but some things increase the chance
that you'll have a baby with Down syndrome. These things are called risk factors.

Your risk of having a baby with Down syndrome is higher if:

  • You are older when you get pregnant. Many doctors believe that the risk increases for women age 35 and older.
  • You have a brother or
    sister who has Down syndrome.
  • You had another baby with Down syndrome.

If you've had a baby with Down syndrome and are planning another pregnancy, you may want to talk to your doctor about genetic counseling.

What are the symptoms?

Children with Down syndrome have a range of symptoms and abilities that can include:

  • Distinctive facial features, such as a flat
    face, small ears, almond-shaped eyes, and a small mouth.
  • A short neck
    and short arms and legs.
  • Low muscle tone and loose joints. Muscle tone
    usually improves by late childhood.
  • Intellectual disability.

Many children with Down syndrome are also born with
heart, intestine, ear, or breathing problems. These health conditions often
lead to other problems, such as airway (respiratory) infections or hearing
. But most of these problems can be treated.

How is Down syndrome diagnosed?

Your doctor may
suggest that you have tests during pregnancy to find out if your baby has Down
. You may decide to have:

  • Screening tests, such as an ultrasound or a blood test during your first or second trimester. These can help show if the developing baby (fetus) is at
    risk for Down syndrome. But these tests sometimes give
    false-positive or false-negative results.
  • Diagnostic tests, such as chorionic villus sampling or amniocentesis. These can show if a baby has Down syndrome. You may want to have these tests if you have abnormal results from a screening test
    or if you are worried about Down syndrome.

Sometimes a baby is diagnosed after birth. A doctor
may have a good idea that a baby has Down syndrome based on the way the baby
looks and the results of a physical exam. To make sure, the baby's blood will
be tested. It may take 2 to 3 weeks to get the test results.

What kind of care will your child need?

Starting soon after birth, a
baby with Down syndrome will be tested for health problems, such as eye, ear, or
thyroid problems. The sooner these problems are found,
the better they can be managed. Regular doctor visits can help your child stay
in good health.

Your doctor will make a treatment plan that meets
your growing child's needs. For example, most children with Down syndrome
need speech therapy and
physical therapy. Teens and adults with Down syndrome may need occupational
to learn job skills and learn how to live on their own.
Counseling may help if there are social or emotional issues..

Many professionals will help you and your child through life. But you are vital to your
child's success. To help your child:

  • Learn all you can about Down syndrome. This
    can help you know what to expect and how you can help your child.
  • Find out what type of financial help you can get by contacting
    your state's Department of Developmental Disabilities.
  • Check into
    resources in your area.
    For example, many states provide free
    early-intervention programs for children with Down syndrome up to age 3 to help
    them get off to a good start.
  • Look into school options for your
    Federal law requires public schools to provide services to all children
    with disabilities who are ages 3 to 21.

Raising a child with Down syndrome has both challenges
and rewards. Remember to take time for yourself. And ask for help when you need
it. Talking to other parents who are raising children with Down syndrome can be
a big help. Ask your doctor or hospital about parent support groups, or contact
a group like the National Down Syndrome Congress.

Learning about Down syndrome:

Being diagnosed:

Ongoing care:

Living with Down syndrome:


Down syndrome
is caused by abnormal cell division in early
embryo development. Normally, a child inherits 46
chromosomes, 23 from each parent. Each chromosome carries DNA, called genes, which tell how the brain and body should develop.

But a fetus with Down
has extra or abnormal chromosomes. Having extra genetic material changes the way the brain and body develop. The type of Down
depends on how many cells have the extra or abnormal chromosomes.

Medical experts believe the cell changes most
often start in a woman's egg before or at conception. Less often, the error
occurs in sperm at conception. It is not known what causes the cells to divide
abnormally. One type of Down syndrome, called translocation-type, may be
passed down through families (inherited).


There are more than 50 features of
Down syndrome. But not every person with Down syndrome has all the same features or health problems. Some features and problems are common.

Body shape and size

  • Short stature (height). A child often grows slowly and
    is shorter than average as an adult.
  • Low muscle tone (hypotonia) throughout the body. Belly muscles
    with low muscle tone can make the stomach stick out.
  • A short, wide neck. The neck may have excess
    fat and skin.
  • Short, stocky arms and legs. Some children also have a wide
    space between the big toe and second toe.

Face shape and features

  • Almond-shaped eyes. The doctor may also notice small spots on the colored part of the eye
  • A flat nasal bridge. The nasal bridge is the area between the nose and eyes.
  • Small ears. And they may be set low on the head.
  • Irregularly
    shaped mouth and tongue
    . The child's tongue may partly stick out. The roof of
    the mouth (palate) may be narrow and high with a downward curve.
  • Irregular and crooked teeth. Teeth often come in late
    and not in the same order that other children's teeth come in.

Health problems

Some health problems related to Down syndrome are:

What Happens

Although every child is different, you may find it helpful to understand some patterns of Down syndrome as your child grows. It also helps to know that most people who have Down syndrome can flourish and live healthy, happy, and productive lives.

Many of the challenges for people with Down syndrome are related to
intellectual disability and health problems. Problems may come up at different ages.


Your baby may reach
growth and development milestones later than other children do. These may include rolling over, sitting,
standing, walking, and talking.


In this age group, health problems and
developmental disabilities can lead to
behavior problems. For example, a child may develop
oppositional defiant disorder in part because he or
she does not communicate well or understand others' expectations.


Puberty starts
at about the same ages for teens with Down syndrome as for other teens.

They may face social difficulties and vulnerabilities, such as abuse, injury, and other types of harm. They may also have a hard time handling strong emotions and feelings. Sometimes these struggles can lead to mental health problems,
especially depression.


Men with Down syndrome most often are sterile and
cannot father children. Many women with Down syndrome can have children, and
they usually have early

What Increases Your Risk

Certain things increase the chance
that you will have a baby with Down syndrome. These are called risk factors. Risk factors may be different based on the type of Down syndrome.

Trisomy 21

Trisomy 21 is the most common type of Down syndrome. People with this type have an extra chromosome (47 instead of 46) in every cell. Risk factors for this type include:

  • Being older when you get pregnant. The risk of having a baby with a genetic problem increases as a woman gets older. Many doctors believe that the risk increases for women age 35 and older. This risk keeps rising the older a woman gets.
  • Having a previous pregnancy in which the fetus had Down syndrome. Women who
    have had a pregnancy with trisomy 21 Down syndrome have a 1-in-100 chance of
    having another child with the condition.footnote 1


This type of Down syndrome is caused by only some cells producing 47 chromosomes. Mosaicism affects up to 3 out of 100 people who have Down
.footnote 2 Risk factors for mosaicism are similar
to those for trisomy 21.


Translocation type is the only type of Down syndrome that may be passed through families, but most of the time it happens randomly. A person with this type has 46 chromosomes, but part of one chromosome breaks and then attaches to a different chromosome. Up to 5 out of 100 people with Down syndrome have the translocation type.footnote 2

You may be a
carrier of the translocation chromosome if you have:

  • A family history of Down syndrome.
  • Had other children with this type of Down syndrome.

If you are thinking about becoming pregnant and you're at risk for having a child with Down syndrome, you may want to see a geneticist or genetic counselor. They can help you understand your risk and work with you on genetic testing.

When To Call a Doctor

Call a doctor immediately if:

  • Your baby or very young child with
    Down syndrome shows signs of:

    • Intestinal blockage, such as severe
      belly pain, vomiting, and possibly swelling of the
    • Heart problems, such as bluish discoloration of the lips
      and fingers, difficulty breathing, or a sudden change in eating or activity
  • A person of any age with Down syndrome shows
    symptoms of dislocated neck bones. This condition often occurs after an injury. Symptoms may

    • Neck pain.
    • Limited neck
    • Weakness in the arms and legs.
    • Difficulty
    • A change in bowel or bladder control.

Call a doctor if a person with Down syndrome:

  • Acts differently or stops doing things that he or she used to. These may be a sign of pain or an illness.
  • Shows signs of mental health issues, such as anxiety or depression. Depression may be triggered by a big change or
    loss, such as the death of a family member or a change in a caregiver.

Who to see

The following health professionals can diagnose and/or
treat a person who has Down syndrome:

Other specialists will be needed, such as:

Your child may need to see other specialists if he or she has any complications.

To prepare for your appointment, see the topic Making the Most of Your Appointment.

Exams and Tests

Testing during pregnancy

There are two types of tests for birth defects: screening and diagnostic.

You may decide to have:

  • A screening test. This can show the chance that a baby has Down syndrome. It can't tell you for sure that your baby has it. If the test result is "positive," it means that your baby is more likely to have Down syndrome. So your doctor may want you to have a diagnostic test to make sure. If the screening test result is "negative," it means that your baby probably doesn't have Down syndrome. But it doesn't guarantee that you will have a normal pregnancy or baby.
  • A diagnostic test. This test can show if a baby has Down syndrome.

The decision to have a test for birth defects is personal. You have to think about your age, your chance of passing on a family disease, your need to know about any problems, and what you might do after you have the test results. Your spiritual beliefs and other values also may affect your decision.

To learn more about testing during pregnancy, see the topic Birth Defects Testing.

Diagnosis after birth

If Down syndrome
was not diagnosed before your baby was born, doctors can often get a clear sense of whether your child has Down syndrome by how your baby looks and by doing a physical exam. But traits can be
subtle in a newborn, depending on the
type of Down syndrome that he or she has.

To confirm a diagnosis, a newborn will have a blood sample taken for
chromosomal analysis, called a karyotype test.

Waiting for a formal diagnosis can be stressful.
Try to focus on caring and bonding with your newborn and getting the help you
need. Your doctor or hospital may also be able to refer you to local resources and support groups. For more information, see Treatment Overview.

Telling others

Another challenge parents may face is finding a way to
tell family members and friends about their child's condition. If you don't
learn that your baby has Down syndrome until after he or she is born, you will
have little time to absorb the information before you need to answer questions
from excited family and friends who are eager for news.

The best approach may be to simply state the facts, such as, "Our baby was diagnosed
with Down syndrome." If you aren't ready to talk about your child's condition
beyond that, say so. You may feel able to tell only one or two people. If this
is the case, consider asking them to share the news with others. Of course,
there is no right or wrong way to tell people. Know that there are resources to help you.

Regular checkups throughout life

Like all children, your child needs well-baby and well-child visits. He or she also needs regular checkups so your doctor can look for early signs of health issues that are common in people who have Down syndrome. The sooner health issues are found, the more easily they can be managed.

The American Academy of Pediatrics has guidelines about when and how often to check for certain health issues in children who have Down syndrome. The Down Syndrome Medical Interest Group also has health care guidelines for people who have Down

Treatment Overview

It is common to experience a
wide range of emotions when your baby is born with Down syndrome. While you have joy from your child's birth, you will also need to learn about and care for his or her special health care needs. Most families choose to raise their
child, while some consider foster care or adoption. Support groups and
organizations can assist you in making the best decision for your family.

Treatment for Down syndrome focuses on making sure that your child has
regular medical checkups, helping your child develop, watching for early signs of health problems, and finding support. With treatment and support, you can help your child live a happy, healthy life.

Get your child regular medical care

You can help your child stay
healthy by scheduling routine checkups. This will help to identify, manage, and
monitor any diseases and health problems that people with Down syndrome have
a higher chance of developing.

Doctors look for
specific problems at various ages, such as
cataracts and other eye conditions during a baby's
first year. These checkups are also a good time for you and the doctor to talk about any concerns you have. Many parents have
similar concerns as their children grow, including:

Help your child to develop

Although it may take
extra time for your child to learn and master skills, you may be surprised at
how much he or she will be able to do. With encouragement, your child can learn important skills. You can help your baby learn to walk, talk, or eat by himself. You can help your child make friends and do well in school. Later you can help him or her learn job skills and maybe live independently.

To learn how to help your child throughout life, see Home Treatment.

Get treatment for health problems

Your child may develop health problems related to Down syndrome, such as ear infections, dental problems, or behavior issues. He or she may need:

  • Medicines, such as antibiotics for ear infections and thyroid hormones for an underactive thyroid
  • Surgery to correct
    problems such as heart defects, bowel obstruction, or spinal problems.
  • Different
    types of therapy, such as speech therapy, nutritional advice from a registered dietitian, or counseling for behavior problems.

Find resources and support

Your doctor or local hospital can refer you to community resources to help you learn what to expect and how
to care for your baby who has Down syndrome.

You may also want to think about joining a
support group. Talking and sharing with other parents
of children with Down syndrome can help you manage difficult feelings. It can
also help you know what kinds of challenges to expect, as well as help you to
discover the joys other parents have experienced with their children. To learn more about support groups, see the Other Places To Get Help section of this topic.

Families of children who have Down syndrome
may need other types of resources, such as:

  • Financial assistance. Children with Down
    have special needs that may create additional expenses for the family.
    In the United States, some state and federal government services help cover the
    costs of certain programs. The amount your child receives depends on different
    things such as your income and your child's level of disability. To find out
    about financial assistance in your state, call your state's Department of
    Developmental Disabilities.
  • Estate planning. Become familiar with
    tax issues and estate planning to ensure that your child will have proper care
    and necessary resources available if you die.
  • Family counseling. This therapy involves
    regular sessions with a qualified counselor who has experience working with
    families who have children with Down syndrome.

It's also important to take time for yourself. Common frustrations and frequent highs and lows can all lead
to exhaustion.
Take good care of yourself so you have the energy to enjoy your child and
attend to his or her needs. For more information, see the topic
Caregiver Tips.

What to think about

There are several
controversial treatments (including supplements,
surgery, and medicine) for Down syndrome that either have not been proved helpful or have questionable benefit. Some treatments may even cause physical harm or have ethical
implications. Talk with your child's doctor before
you try treatments that you and the doctor haven't yet discussed.


Down syndrome
cannot be prevented. There are many things you can do to help your child live a happy and healthy life. For more information, see Treatment Overview.

Home Treatment

As a parent of a child with
Down syndrome, you play an important role in helping
your child reach his or her full potential. You and your child will have challenges and

Babies and young children

Your child will likely take more time than
other children to reach certain milestones. But his or her achievements are just as
significant and exciting to watch. Be patient, and encourage your young child as he or she learns.

  • Walking and other motor development milestones. You
    can help your baby and young child strengthen muscles through directed play. As
    your child gets older, you can work with a
    physical therapist and your doctor to design an
    exercise program to help your child maintain and increase muscle strength and
    physical skills.
  • Self-feeding. Help your child
    learn to eat independently by sitting down together at meals. Use gradual steps
    to teach your child how to eat. Start with allowing your child to eat with
    his or her fingers and offering thick liquids to drink.
  • Dressing. Teach your child how to dress himself or
    herself by taking extra time to explain and practice.
  • Communicating. Simple measures, such as looking at
    your baby while speaking or showing and naming objects, can help your baby
    learn to talk.
  • Grooming and hygiene. Help your child learn the importance of being clean and looking
    his or her best. Establish a daily routine for bathing and getting ready. As
    your child gets older, this will become increasingly important. Gradually add
    new tasks to the routine, such as putting on deodorant.

Encourage your child to learn, socialize, and be physically active. For example, enroll your child in
classes with other children of the same age. Think of ways you can stimulate
your child's thinking skills without making tasks too difficult. But know
that it is okay for your child to be challenged and sometimes fail.

Enroll your young child (infant
through age 3) in an early-intervention program. These programs have staff who
are trained to monitor and encourage your child's development. Talk with a
doctor about programs in your area.

School-age children

Keep encouraging your child to learn, socialize, and be physically active. Here are some tips:

  • Be involved with your
    child's education. Most children who have Down syndrome can
    be included in a regular classroom. Your child may need an adapted curriculum
    and may sometimes attend special classes.
  • Know that your child has a legal right to education. These laws also protect your rights as a parent to
    be fully informed about or to challenge educational decisions concerning your
  • Be active with your child. This will help your child feel better, whether or not he or she has weight problems. To learn more, see:

Adolescents and teens

Socially, teens who have Down
have the same needs as everyone else. Most will want to date,
socialize, and form intimate relationships. You can help your child develop healthy relationships by teaching appropriate social skills and behavior. Peer
acceptance and
self-esteem are affected by how well your preteen or
teen addresses these issues.

Here are some tips:

  • As your child
    puberty, teach proper
    grooming and hygiene.
  • Encourage your child to take part in school and community activities.
    Teens usually graduate from high school,
    unless their disabilities are severe. Provide opportunities for your child to form healthy friendships. This is critical for your
    child's happiness and sense of belonging.
  • Be aware of the
    social difficulties and vulnerabilities your child
    faces. Start early to prepare your child for healthy adult relationships and the possibility of an intimate relationship.

    • Teach respect for his or her body and the
      bodies of others.
    • Talk openly about your morals and
    • Provide
      sex education that is honest and presented in a way that your child can
      understand. Talk about the reproductive and intimate aspects of
    • Discuss
      birth control methods and safer sex practices to
      sexually transmitted infections.

During your child's teen years, you may also want to start planning for your child's future jobs and living
arrangements. Many people who have Down syndrome live
independently as adults in group homes or apartments with support services. But
most group homes and community centers require a basic level of
self-sufficiency, such as being able to eat, dress, and bathe independently.
Vocational training helps many young adults learn how
to work in many settings, such as stores, restaurants, and


Most adults who have Down
syndrome function well in society. They often have regular jobs,
have friends and romantic relationships, and take part in community

An adult with Down syndrome benefits from working outside the
home and having social activities. Having an active lifestyle with continued
learning makes anyone, including a person with Down syndrome, feel more vibrant
and feel that his or her life is meaningful.

Adult day care may be an option. Or the Special Olympics and other activities that emphasize exercise might be options. Encourage
an adult's interests, such as in art or in hobbies such as drawing.



  1. Cunningham FG, et al. (2010). Prenatal diagnosis and fetal therapy. In Williams Obstetrics, 23rd ed., pp. 287–311. New York: McGraw-Hill Medical.
  2. Haldeman-Englert CR, et al. (2012). Specific chromosome disorders in newborns. In CA Gleason, SU Devaskar, eds., Avery's Diseases of the Newborn, 9th ed., pp. 196–208. Philadelphia: Saunders.

Other Works Consulted

  • American Academy of Pediatrics, American Academy of Family Physicians, and American College of Physicians-American Society of Internal Medicine (2002). A consensus statement on health care transitions for young adults with special health care needs. Pediatrics, 110(6): 1304–1306.
  • Bull MJ, et al. (2011). Health supervision for children with down syndrome. Pediatrics, 128(2): 398–406.
  • Cohen WI (2009). Down syndrome: Care of the child and family. In WB Carey et al., eds., Developmental-Behavioral Pediatrics, 4th ed., pp. 234–245. Philadelphia: Saunders Elsevier.
  • Driscoll DD, Gross SJ (2008). First trimester diagnosis and screening for fetal aneuploidy. Genetics in Medicine, 10(1): 73–75.
  • Steingass KJ, et al. (2011). Developmental disabilities grown up: Down syndrome. Journal of Developmental and Behavioral Pediatrics, 32(7): 548–558.
  • Summar K, Lee B (2011). Down syndrome and other abnormalities of chromosome number. In RM Kliegman et al., eds., Nelson Textbook of Pediatrics, 19th ed., pp. 399–404. Philadelphia: Saunders.


ByHealthwise StaffPrimary Medical Reviewer John Pope, MD - Pediatrics Kathleen Romito, MD - Family Medicine Specialist Medical Reviewer Louis Pellegrino, MD - Developmental Pediatrics

Current as ofJanuary 22, 2018