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Down Syndrome

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What is Down Syndrome?

Down Syndrome is a genetic disorder in which children are born with an extra copy of chromosome 21. The disease impacts how a person looks, their ability to think, learn, and reason. As an infant and young adult, down syndrome is associated with intellectual disability, flattened facial features and a weak muscle tone.

The prevalence of Down syndrome in live births worldwide is between 1 in 1,000 to 1,100. It is the single most common genetic chromosomal disorder, with approximately 3,000 to 5,000 babies born with the condition each year. A global event is marked on 21 March each year, World Down Syndrome Day, to raise awareness and to advocate the rights of people or children living with the genetic condition.

Characteristics of Down Syndrome

Down Syndrome is a genetic disorder in which children are born with an extra copy of chromosome 21. The disease impacts how a person looks, their ability to think, learn, and reason. As an infant and young adult, down syndrome is associated with intellectual disability, flattened facial features and a weak muscle tone.

The prevalence of Down syndrome in live births worldwide is between 1 in 1,000 to 1,100. It is the single most common genetic chromosomal disorder, with approximately 3,000 to 5,000 babies born with the condition each year. A global event is marked on 21 March each year, World Down Syndrome Day, to raise awareness and to advocate the rights of people or children living with the genetic condition.

Characteristics of Down Syndrome

Each person with Down Syndrome is different, however, most children have mild to moderate cognitive impairment. The degree of learning disability and delayed development varies with each individual.  There are certain physical traits that people with Down syndrome often share:

  • Short height and stocky body shape

  • Flattened facial profile and nose

  • Atypically shaped ears

  • Protruding tongue

  • Excessive flexibility

  • White spots on the coloured part of the eye (called Brushfield spots)

  • Eyes that slant upwards and outwards

  • Wide, short hands with short fingers

  • Decreased or poor muscle tone

Types of Down Syndrome

Trisomy 21: The most common type, where there are three copies of 21 chromosomes instead of two in every cell of the body. It accounts for 95 percent of the cases.

 

Translocation: It accounts for 4 percent of all the Down Syndrome cases. In translocation, there's only an extra part of chromosome 21.  Though the number of chromosomes are 46, one of them has an extra piece of chromosome attached which causes the condition.

 

Mosaicism: It occurs when a child is born with an extra chromosome in some but not in all the cells and they tend to have fewer symptoms as compared to Trisomy 21. It accounts for 1 percent of the cases with down syndrome.

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