Down syndrome also known as trisomy 21, is a condition in which a person has an extra chromosome. It is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of the inherited traits and are grouped along rod-like structures called chromosomes.
Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.
Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.
Children and adults with Down syndrome have distinct facial features. Though not all people with down syndrome have the same features, some of the more common features include:
- Flattened face
- Short neck
- Small head
- Poor muscle tone
- Protruding tongue
- Upward slanting eye lids (palpebral fissures)
- Excessive flexibility
- Unusually shaped or small ears
- Short height
- Relatively short fingers and small hands and feet
- Tiny white spots on the colored part of the eye
- Broad, short hands with a single crease in the palm
Types of Down Syndrome
There are three types of down syndrome :
Trisomy 21 – means there’s an extra copy of chromosome 21 in every cell. This is the most common form of Down syndrome.
Mosaicism – occurs when a child is born with an extra chromosome in some but not all of their cells. People with mosaic Down syndrome tend to have fewer symptoms than those with trisomy 21.
Translocation – In this type of Down syndrome, children have only an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached.
There’s no cure for Down syndrome, but there’s a wide variety of support and educational programs that can help both people with the condition and their families.
Because Down syndrome affects everyone who has it in different ways, there’s no one-size-fits-all approach to treatment. But doctors do know that the earlier children get care, the more likely they are to live up to their full potential.
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