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Down Syndrome

Medical Questions » Down Syndrome
Name: Down Syndrome
Also known as: Mongolism; Trisomy 21
A genetic defect causing various body and organ malformations.
Causes of Down Syndrome
Congenital defect due to the presence of three copies of chromosome 21 instead of two (one from each parent). Occurs in one in every 600 births overall, but rises to a rate of one in every 100 for mothers over 40 years of age.
Symptoms of Down Syndrome
Considerable variation between individuals. Common characteristics include poor muscle tone, joints that move further than normal, slanted eyes, a flattened facial appearance (accounting for the former name of ' mongolism' ), small stature, some measure of intellectual disability, small nose, a short broad hand and finger prints that have a whorl with the loop on the thumb side of the finger tip and other abnormal features. Other characteristics may include a fissured protruding tongue, short neck, widely spaced first and second toes, dry skin, sparse hair, small genitals, small ears, poorly formed teeth, and a squint.
Tests for Down Syndrome
Usually easily recognized and diagnosed at birth. Diagnosis before birth is possible from the fifteenth week of pregnancy by amniocentesis (taking a sample of fluid from around the fetus) or chorionic villus (placenta) biopsy.
Treatment for Down Syndrome
None specific, but plastic surgery may help some deformities.
Complications of Down Syndrome of its treatment
More than average medical attention for ear, nose and throat infections is often necessary. More severe health problems include abnormal heart formation, abnormal formation of the intestines (especially the duodenum), a clouded lens in the eye, infertility and a higher than normal incidence of leukemia.
Likely Outcome of Down Syndrome
No cure, but provided there are no serious heart abnormalities, the life expectancy is close to normal. Good education and physiotherapy are effective in helping patients achieve a relatively normal life.
       
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