Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.
Causes, incidence, and risk factors
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 the most common single cause of human birth defects.
Down syndrome symptoms vary from person to person and can range from mild to severe.However, children 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
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 (Brush field 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 defect or ventricular septal defect
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
Hearing problems, probably caused by regular 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
Under active thyroid (hypothyroidism)
Sign Sand 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 heart murmur when listening to the baby's chest with a stethoscope.
A blood test can be done to check for the extra chromosome and confirm the diagnosis.See: Chromosome studies
Other tests that may be done include:
Echo cardiogram to check for heart defects (usually done soon after birth)
X-rays of 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 - 12 months, depending on age
Dental exams every 6 months
X-rays of the upper or cervical spine between ages 3 - 5 years
Pap smears and pelvic exams beginning during puberty or by age 21
Thyroid testing every 12 months
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