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Down Syndrome

Down syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. It is caused by a chromosomal abnormality: for some unexplained reason, an accident in cell development results in 47 instead of the usual 46 chromosomes. This extra chromosome changes the orderly development of the body and brain. In most cases, the diagnosis of Down syndrome is made according to results from a chromosome test administered shortly after birth.

There are over 50 clinical signs of Down syndrome, but it is rare to find all or even most of them in one person. Some common characteristics include:

Poor muscle tone

Slanting eyes with folds of skin at the inner corners (called epicanthal folds)

Hyperflexibility (excessive ability to extend the joints)

Short, broad hands with a single crease across the palm on one or both hands

Broad feet with short toes

Flat bridge of the nose

Short, low-set ears

Short neck

Small head

Small oral cavity; and/or Short, high-pitched cries in infancy

Individuals with Down syndrome are usually smaller than their non-disabled peers, and their physical as well as intellectual development is slower.

Besides having a distinct physical appearance, children with Down syndrome frequently have specific health-related problems. A lowered resistance to infection makes these children more prone to respiratory problems. Visual problems such as crossed eyes and far- or near-sightedness are higher in those with Down syndrome, as are mild to moderate hearing loss and speech difficulty.

Approximately one third of babies born with Down syndrome have heart defects, most of which are now successfully correctable. Some individuals are born with gastrointestinal tract problems that can be surgically corrected.

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