WHAT IS A SYNDROME?

A syndrome is a set of medical signs and symptoms that are correlated with each other and often associated with a particular disease or disorder. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21 thus causing changes in development and physical features. A healthy person carries 46 chromosomes (23 pairs) in the cell nucleus whereas a Down syndrome person carries one additional chromosome (i.e., 47 chromosomes altogether).

Figure 01: Distribution of Chromosome pairs of a normal individual

Figure 02 : Distribution of chromosome pairs in a person with Down syndrome

The occurrence of Down syndrome solely depends on the genetic factor and there is no influence from race, religion, color, culture, or economic status. Down syndrome affects about one out of every 800-1000 babies born globally.

There are other instances that may lead to Down syndrome, namely Robertsonian Translocation which causes chromosomal deletions or addition and result in trisomy 21 (Down syndrome). In such scenarios, there is a tendency to be one parent of a Down syndrome carrier. But the conditions will not be transferred to the babies of such carriers.

Usually, it is easy to identify a Down syndrome based on physical appearance. Each person with Down syndrome may have intellectual and developmental problems that may be mild, moderate, or severe. Some people with Down syndrome are healthy while others have significant health problems such as serious heart defects. There are no similarities between the two kids with Down Syndrome

Features of a kid with Down Syndrome

• Flattened head
• Elate facial profile
• Upward slanting eyes] lids.
• Low muscle tone.
• Abnormal-shaped small ears.
• Broad, short hands with a single crease in the palm.
• Deep groove between 1st and 2nd toes
• Short neck.
• Short hands with short fingers
• Protruding tongue.
• Tiny white spots on the colored part (iris) of the eye called Brushfield’s spots.
• Short height.
• Excessive flexibility.

Every kid with Down syndrome may not show all the above mentioned symptoms.

Can we cure Down Syndrome?
No. There is no cure for Down syndrome, but the symptoms of the condition are manageable. Treatment is available for any associated conditions that may arise