Downs Syndrome Disease Symptoms

Published on Sep 29 2009, in the categories: Uncategorized

Down's syndrome is a chromosomial disorder caused by the existence of an extra 21 chromosome. Down's syndrome affects the cognitive abilities and development, facial appearance and physical growth.

The symptoms of Down's syndrome are usually noticed at birth but the syndrome may be identified during pregnancy by a medical procedure named amniocentesis.

The most common facial features of Down syndrome are: a flat face, a flat nasal bridge, small nose, the specific upward slant to the eyes, epicantus (the presence of a skin fold in the medial corner of the eye), small ears that usually fold at the top, abnormally small mouth (microstomia) and chin (microgenia), Brush field spots (white spots in the iris) large protuding tongue and microcephaly (abnormally small head).

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The babies with this disorder are usually born earlier than normally, they have smaller feet and hands, their articular ligaments are loose and they have a reduced muscular tone (hypotonia). Hypotonia a main feature in Down's syndrome. The muscles of the patient feel floppy and it usually affects all the skeletal muscles in the body. Therapy for hypotonia should be started rapidly, in order to reduce the disease's impact on the development of motor skills.

An early intervention is also the key in preventing the impact of the low muscular tone on the future speaking and eating skills of the baby. Microstomia (the small mouth), accompanied by the undeveloped sinuses and the frequent respiratory infections the individuals with Down's syndrome are exposed to may lead to respiratory problems, thus leading to the baby's necessity to breathe through mouth and so, as consequence there will be encouraged the protuding tongue. This symptom, combined with hypotonia will lead to nurshing problems, since the child will not be able to eat properly and later on, there will occur problems with eating solid food.

Other features of Down's syndrome are: the Simian crease (unique palmar crease- in babies without the disease there are two palmar creases on each hand), short limbs, the lack of the distal phalanx in the little finger,flat, broad hands with short fingers, weaker or absent Monro reflexes, broad flat feet with short toes and with an abnormally large space between the big toe and the second.

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The individuals with this disorder usually have a lower than average IQ and cognitive abilities. They usually have a speech delay not only because of the intellectual impairment but also determined by hearing loss, malformations of the acustic conduct or middle ear problems.

Vision problems will also occur in more than 70% of children with this syndrome. The ophtalmological problems may range from myopia and hypermetropia to blocked tear duct cataracts and astigmatism.

The congenital heart defects that occur with this disorder are atrioventricular septal defect, ventricular septal defect and atrial septal defect, requiring surgery. Endocrine problems may also occur, the most frequent are represented by thyroid disorders (hypothyroidism and hyperthyroidism) but pituitary problems may occur as well thus leading to a shortage of growth hormone, which leads to an even more marked growth delay.

The gastrointestinal tract is frequently affected by many anatomical and functional abnormalities. Aganglionnic megacolon, duodenal atresia, anular pancreas, tracheo-esophageal fistula and malabsorbtion disorders are the most common gasrtointestinal problems.

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