Down syndrome is a genetic condition in which a person has 47
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 human birth defects.
Down syndrome symptoms vary from person to person and can range from mild to severe. No matter the severity of the condition, persons 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 toneat birth
Excess skin at the nape of the neck
Separated joints between the bones of the skull (sutures)
Single crease in the palm of the hand
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 their average adult height.
Children may also have delayed mental and social development. Common problems may include:
Short attention span
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 defector ventricular septal defect
Dementiamay 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 atresiaand duodenal atresia
Hearing problems, probably caused by regular ear infections
Hip problems and risk of
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 (
Exams and Tests
A doctor can often make an initial diagnosis of Down syndrome at birth based on how the baby looks. The doctor may hear a
Other tests that may be done include:
Echocardiogramto check for heart defects (usually done soon after birth) ECG X-raysof the chest and gastrointestinal tract
Persons with Down syndrome need to be closely screened for certain medical conditions. They should have:
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 smearsand pelvic exams beginning during puberty or by age 21
Thyroid testing every 12 months
There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately 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. However, many infants with Down syndrome can successfully breast-feed.
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.
Adolescent females and women with Down syndrome are usually able to get pregnant. There is an increased risk of 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
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.
National Down Syndrome Society |
National Down Syndrome Congress |
Although many Down syndrome children have physical and mental limitations, they can live independent and productive lives well into adulthood.
About 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.
Persons with Down syndrome have an increased risk of 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 of dementia.
- Airway blockage during sleep
- Compression injury of the spinal cord
Endocarditis Eye problems
ear infectionsand increased risk of other infections Hearing loss
- Heart problems
- Gastrointestinal blockage
- Weakness of the back bones at the top of the neck
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 check ups with a doctor.
Experts recommend genetic counseling for persons 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.
Tests such as nuchal translucency ultrasound,