What are the characteristic features and symptoms of Down syndrome?

Date: 2015-10-07; view: 425.

What are the risk factors for conceiving a child with Down syndrome?

The only well known risk factor for conceiving a child with Down syndrome is advanced maternal age. The older the woman is at conception, the greater the risk of having a child with Down syndrome.

Mother's age at conception Risk of Down syndrome

25 years 1 in 1,250

30 years 1 in 1,000

35 years 1 in 400

40 years 1 in 100

45 years 1 in 30

Parents who have conceived a child with Down syndrome have a 1% increased risk of conceiving another child with Down syndrome. If a parent is a carrier of a chromosome 21 translocation, the risk can be as high as 100%.

Women with Down syndrome have a 50% risk of conceiving a child with Down syndrome. If the father has Down syndrome, the risk of conceiving a child with Down syndrome is also increased.

Although the severity of Down syndrome ranges from mild to severe, most individuals with Down syndrome have widely recognizable physical characteristics. These include:

• a flattened face and nose, a short neck, a small mouth sometimes with a large, protruding tongue, small ears, upward slanting eyes that may have small skin folds at the inner corner (epicanthal fold);
• white spots (also known as Brushfield spots) may be present on the colored part of the eye (iris);
• the hands are short and broad with short fingers, and with a single crease in the palm;
• poor muscle tone and loose ligaments are also common; and
• development and growth is usually delayed and often average height and developmental milestones are not reached.