What causes down syndrome

DOWN syndrome is one of the most common genetic defects affecting gene number 21.

Ask the doctor with Dr Gloria Ndagire

Dear Doctor,
My sister’s baby was recently diagnosed with down syndrome. What is down syndrome? Is it curable?
Sam

Dear Sam,
DOWN syndrome is one of the most common genetic defects affecting gene number 21.

It affects close to one in 800 children. A normal human being has a total of 46 chromosomes, 23 from each of their parents.

The duplication of chromosome 21 results into a total of 47 genes in patients with down syndrome. The defect is usually noticed in infancy since it results into some abnormal features.

Sufferers usually have small ears, a protruding tongue, a single palmer crease and a flat facial profile. The children usually develop slowly and may have feeding problems. The defect is not curable and cannot be corrected since it is part of the individual’s genetic make up.

The chances of genetic defects generally increase with maternal age and exposure to harmful drugs and toxins during pregnancy.

Some people with down syndrome may need special care and special schooling while others may go on to live relatively normal lives.

Family members of an affected child also need special counselling and support to fully understand the condition and how to care for the child.