Down syndromeTrisomy 21
Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.
Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA is the material that holds genes. It is the bu...
In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called trisomy 21. The extra chromosome causes problems with the way the body and brain develop.
Down syndrome is one of the most common causes of birth defects.
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.
The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed.
Common physical signs include:
- Decreased muscle tone at birth
- Excess skin at the nape of the neck
- Flattened nose
- Separated joints between the bones of the skull (sutures)
- Single crease in the palm of the hand
- Small ears
- Small mouth
- Upward slanting eyes
- Wide, short hands with short fingers
- White spots on the colored part of the eye (Brushfield spots)
Physical development is often slower than normal. Most children with Down syndrome never reach average adult height.
Children may also have delayed mental and social development. Common problems may include:
- Impulsive behavior
- Poor judgment
- Short attention span
- Slow learning
As children with Down syndrome grow and become aware of their limitations, they may also feel frustration and anger.
Many different medical conditions are seen in people with Down syndrome, including:
- Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect
Atrial septal defect
Atrial septal defect (ASD) is a heart defect that is present at birth (congenital). As a baby develops in the womb, a wall (septum) forms that divide...Read Article Now Book Mark Article
- Dementia may be seen
- Eye problems, such as cataracts (most children with Down syndrome need glasses)
- Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia
Esophageal atresia is a digestive disorder in which the esophagus does not develop properly. The esophagus is the tube that normally carries food fr...Read Article Now Book Mark Article
- Hearing problems, probably caused by repeated ear infections
- Hip problems and risk of dislocation
- Long-term (chronic) constipation problems
- Sleep apnea (because the mouth, throat, and airway are narrowed in children with Down syndrome)
- Teeth that appear later than normal and in a location that may cause problems with chewing
- Underactive thyroid (hypothyroidism)
Exams and Tests
A doctor can often make a diagnosis of Down syndrome at birth based on how the baby looks. The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.
A heart murmur is a blowing, whooshing, or rasping sound heard during a heartbeat. The sound is caused by turbulent (rough) blood flow through the h...
A blood test can be done to check for the extra chromosome and confirm the diagnosis.
Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or diseas...
Other tests that may be done include:
- Echocardiogram and ECG to check for heart defects (usually done soon after birth)
An echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...Read Article Now Book Mark Article
- X-rays of the chest and gastrointestinal tract
People with Down syndrome need to be closely screened for certain medical conditions. They should have:
- An eye exam every year during infancy
- Hearing tests every 6 to 12 months, depending on age
- Dental exams every 6 months
- X-rays of the upper or cervical spine between ages 3 and 5 years
- Pap smears and pelvic exams beginning during puberty or by age 21
- Thyroid testing every 12 months
There is no specific treatment for Down syndrome. If treatment is needed, it is usually for associated health problems. For example, a child born with a gastrointestinal blockage may need major surgery right after birth. Certain heart defects may also require surgery.
When breast-feeding, the baby should be well supported and fully awake. The baby may have some leakage because of poor tongue control. But many infants with Down syndrome can successfully breastfeed.
Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important. Before beginning sports activities, the child's neck and hips should be examined.
Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence.
Teen girls and women with Down syndrome are usually able to get pregnant. There is an increased risk for sexual abuse and other types of abuse in both males and females. It is important for those with Down syndrome to:
- Be taught about pregnancy and taking the proper precautions
- Learn to advocate for themselves in difficult situations
- Be in a safe environment
If the person has any heart defects or other heart problems, antibiotics may need to be prescribed to prevent a heart infection called endocarditis.
Endocarditis is inflammation of the inside lining of the heart chambers and heart valves (endocardium). It is caused by a bacterial or, rarely a fun...
Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behavior problems. Special educators are also often needed.
The following resources can provide more information on Down syndrome:
- Centers for Disease Control and Prevention -- www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
- National Down Syndrome Society -- www.ndss.org
- National Down Syndrome Congress -- www.ndsccenter.org
- NIH Genetics Home Reference -- ghr.nlm.nih.gov/condition/down-syndrome
Although many children with Down syndrome have physical and mental limitations, they can live independent and productive lives well into adulthood.
About one half of children with Down syndrome are born with heart problems, including atrial septal defect, ventricular septal defect, and endocardial cushion defects. Severe heart problems may lead to early death.
People with Down syndrome have an increased risk for certain types of leukemia, which can also cause early death.
The level of intellectual disability varies, but is usually moderate. Adults with Down syndrome have an increased risk for dementia.
When to Contact a Medical Professional
A health care provider should be consulted to determine if the child needs special education and training. It is important for the child to have regular checkups with a doctor.
Experts recommend genetic counseling for people with a family history of Down syndrome who wish to have a baby.
A woman's risk of having a child with Down syndrome increases as she gets older. The risk is significantly higher among women age 35 and older.
Couples who already have a baby with Down syndrome have an increased risk of having another baby with the condition.
Nuchal translucency ultrasound
The nuchal translucency test measures the nuchal fold thickness. This is an area of tissue at the back of an unborn baby's neck. Measuring this thi...
Amniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...
Chorionic villus sampling
Chorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.
Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 98.
Driscoll DA, Simpson JL, Holzgreve W, Otano L. Genetic screening and prenatal genetic diagnosis. In: Gabbe SG, Niebyl JR, Simpson JL, et al, eds. Obstetrics: Normal and Problem Pregnancies. 7th ed. Philadelphia, PA: Elsevier; 2017:chap 10.
Nussbaum RL, McInnes RR, Willard HF. The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson and Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 6.
Review Date: 4/4/2019
Reviewed By: Liora C. Adler, MD, Pediatric Emergency Medicine, Joe DiMaggio Children's Hospital, Hollywood, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.