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Description

Down Syndrome is a birth disorder in which the baby has an extra copy of chromosome 21.  The chances of giving birth to a baby with Down Syndrome increase sharply with maternal age, particularly when the mother is over 35.

There are three main types:

trisomy 21 (the most common type): there is an extra chromosome 21 in every cell  
translocation: an extra part of chromosome 21 is attached  to another chromosome in every cell
mosaicism: some cells have an extra chromosome 21 attached, while others are normal.

Babies with Down Syndrome have distinctive physical features, including a slightly flattened face, eyes slanting upwards, and slightly smaller ears, hands and feet. They usually have some degree of intellectual impairment, and may be developmentally delayed. They frequently have other health problems, such as hearing or vision disorders; hypothyroidism; or skeletal, intestinal or heart defects.


Treatment

While there is no treatment for the chromosomal abnormality causing Down Syndrome, early diagnosis and treatment of any allied health problems improve the person's life expectancy and quality of life.

Early intervention programs by health care professionals (e.g. physiotherapy, speech therapy) and special education programs assist children to achieve their potential to lead full, productive lives.


Prognosis

With improved medical care, the life expectancy of people with Down syndrome has increased and the majority now live past the age of 55.

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