Down Syndrome

Down Syndrome

Down syndrome was first found when a physician named John Down published an essay in England about children with features common to those of people with retardation who displayed actions distinctly different from other children with mental retardation. Down was superintendent of an mental asylum for children England when he discovered a vast distinction between the average child with mental retardation and those with down syndrome.

Down syndrome is a chromosomal abnormality that causes severe developmental problems for children afflicted with this terrible disease. There are three major types of Down Syndrome. The child is most likely to have Trisomy 21, meaning presence of extra genetic material on the 21st pair of chromosomes resulting from an anomaly in cell division during development of the egg or sperm or during fertilization. 95% of people with DS have Trisomy 21. Around 4% have Translocation, where the extra chromosome 21 broke off and became attached to another chromosome. About 1% of those affected with DS have Mosaicism, where only some cells have Trisomy 21.The extra genes cause the characteristics that we know as Down syndrome. They also receive all other traits from there parents thus causing a combination of features typical of Down syndrome on top of the individual features from their parents. People with down syndrome also have the distinct physical features, but they have more similarities to the average person. These features that we can directly relate to that of someone with down syndrome is critical in the diagnostic process for a physician, otherwise not much emphasis should be placed on the physical aspect of this disease.

There are over 120 features of down syndrome such as the eyes have an upward and outward slant, there is a fold of skin on the inner side of the eye (epicanthal fold), the eye slit is narrow and short small, white patches can be seen on the edge of the iris, the face has a flat appearance, the head is smaller than average, the soft spots on the head (fontanels) are larger than normal because the baby is growing more slowly, the ears are smaller and lower-set, the mouth is small and the lips are thin which leads to the tongue sticking out because the inside of the mouth is smaller, the neck appears slightly short and loose folds of skin are seen at the back and sides (these go away as the baby grows), the legs and arms are short in relation to the body, the hands are broad and flat with short fingers, the little finger slants inward,