Down Syndrome

Down syndrome is a genetic condition and chromosome disorder, in which the patient typically has an additional copy of chromosome 21, leading to 47 total rather than the normal 46. In human birth defects, Down syndrome is the most common single cause.

Symptoms:

Down syndrome symptoms may vary significantly from one case to the other. Some medical signsand symptoms which are common or have increased risk include:

Acute lymphocytic leukemia
Atrial septal defect
Brushfield spots (white spots on the iris of the eye)
Cataracts
Decreased muscle tone
Dislocated hip
Duodenal atresia
Epicanthic folds
Esophageal atresia
Extra skin at nape of neck
Eye problems
Eyes which are slanted upward and / or rounded
Flattened nose
Gastroesophageal reflux disease (GERD)
Gastrointestinal blockage
Hearing problems
Heart birth defects
Hypothyroidism
Mental retardation
Separated sutures
Short and wide hands
Short fingers
Short stature
Single transverse palmar crease (hands)
Obstructive sleep apnea (OSA)
Slow mental, physical and social development
Smaller ears
Smaller head
Smaller mouth
Ventricular septal defect

Causes:

Down syndrome is typically caused when there is a second copy of chromosome 21. There are then 47 chromosomes in the patient, rather than the typical 46.

Complications:

Airway blockage while sleeping
Alzheimer's disease
Dementia (in adults)
Ear infections
Epilepsy
Eye problems
Hearling loss
Heart problems
Immune deficiency
Infertility
Gastrointestinal blockage
Leukemia
Mental retardation
Neurodegenerative disease (in adults)
Spinal cord compression injury
Thyroid disease
Weakness in back neck bones

Diagnosis

Diagnosis of Down syndrome is made by a doctor or medical professional. The condition can be diagnosed either during pregnancy or upon birth. A diagnosis may be made or confirmed by the baby's looks at birth, a blood test for the additional chromosome, listening for a heart murmur, echocardiogram, electrocardiogram (ECG), or chest or GI tract X-ray.

Treatment

Down syndrome does not have a certain prescribed treatment. Surgery may be necessary in the case of some birth defects. Special education, as well as speech and physical therapy may assist the child in development in those areas. Patients with Down syndrome should be watched cautiously for medical conditions related to the syndrome.

Prevention

Down syndrome risk is considered to be increased in cases with older women having children, and where the couple has already had a child with Down syndrome.

See also:

Birth defects

Synonyms and other key terms:

Chromosome 21
John Langdon Down
Trisomy 21

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Down Syndrome