What is Down Syndrome?

Down syndrome is a genetic disorder in which a person has an extra chromosome. Typically, the nucleus of each cell has 23 chromosomes, half inherited from each parent. Down Syndrome happens when an individual has a full or partial extra copy of chromosome 21.

What are the characteristics of Down Syndrome?

Some of the physical features that are commonly found in people with Down Syndrome are:

  • flattened face
  • small ears
  • small mouth
  • short neck
  • flat back of head
  • protruding tongue
  • short and broad hands
  • big toes widely spaced
  • short height

Every person with Down Syndrome has their own characteristics and unique abilities, so some of these features may not be present if any at all.

How common is Down Syndrome?

It is the most frequently occurring chromosomal disorder in the United States. About every 1 in 700 babies are born with it yearly equating to about 6,000 babies a year in the US.

What causes Down Syndrome?

The cause of Down Syndrome is unknown. Down Syndrome is the least funded major genetic disorder by the National Institutes of Health despite being the most frequent chromosomal disorder. Since there is minimal funding, there is also minimal definitive knowledge. However, we do know that the older the woman is when pregnant, the higher the chances of having a child with Down Syndrome. Although we know this as a fact, about half of babies born with this disorder are born to mothers under age 35 because younger women give birth more often than older women.

What are the different types?

There are three different types of Down Syndrome. The physical features and behaviors are similar between all which is why most people cannot tell the difference between each.

Trisomy 21: Most cases of Down Syndrome are trisomy 21. Each cell in the body has 3 separate copies of chromosome 21 instead of 2.

Translocation Down Syndrome: This type happens when the extra chromosome is present but attached to another chromosome rather than being a separate chromosome 21.

Mosaic Down Syndrome: Mosaic means combination. This type happens when some cells have 3 copies of chromosome 21, but others have the typical two copies. This type is the least common among children with Down Syndrome, and also the type with fewer features of the disorder present due to some cells having the typical number of chromosomes.

Is there a cure for Down Syndrome?

There is currently no cure for the genetic disorder. However, different treatments can dramatically improve one’s skills. These may include physical, speech, and/or occupational therapy.

What is the future for people with Down Syndrome?

Many of those with Down Syndrome work, volunteer, and even vote in the United States. Some of them live alone or in assisted independent arrangements, and a growing percent partake in a romantic relationship. An increasing number of institutions have programs designed specifically for differently-abled students, so many do receive a great education. Many individuals also have great talents that don’t go unnoticed, such as famous actors Chris Burke and Lauren Potter. Most of those with Down Syndrome that have support from loved ones live a happy and productive life.

If you would like to learn more, click HERE for CDC’s page of facts about Down Syndrome.

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