Downs Syndrome

Down Syndrome is usually suspected after birth as a result of the baby's appearance. There are many physical characteristics which form the basis for suspecting an infant has Down syndrome. Many of these characteristics are found, to some extent, in the general population of individuals who do not have Down syndrome. Hence, if Down syndrome is suspected, careful evaluation is required to confirm the diagnosis. Some infants with Down syndrome have only a few of these traits, while others have many. Among the most common traits are:

Muscle hypotonia, low muscle tone.

Flat facial profile, a somewhat depressed nasal bridge and a small nose.

Oblique palpebral fissures, an upward slant to the eyes.

Dysplastic ear, an abnormal shape of the ear.

A single deep crease across the center of the palm.

Hyperflexibility, an excessive ability to extend the joints.

Dysplastic middle phalanx of the fifth finger, fifth finger has one flexion furrow instead of two.

Epicanthal folds, small skin folds on the inner corner of the eyes.

Excessive space between large and second toe.

Enlargement of tongue in relationship to size of mouth.

Cause:

As yet it is not know what causes the presence of an extra chromosome 21. It can come from either the mother or the father. There is no way of predicting whether a person is more or less likely to make and egg or sperm with 24 chromosomes.

Down Syndrome is therefore usually caused by an error in cell division called non-disjunction. However, two other types of chromosomal abnormalities, mosaicism and translocation, are also implicated in Down syndrome - although to a much lesser extent. Regardless of the type of Down syndrome which a person may have, all people with Down syndrome have an extra, critical portion of the number 21 chromosome present in all, or some, of their cells. This additional genetic material alters the course of development and causes the characteristics associated with the syndrome.

Treatment:

There is no medical treatment for Down's Syndrome. However specialized care and assistance is helpful is assisting the individual.