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Down Syndrome

What is Down Syndrome?

Down syndrome is set of mental and physical symptoms that result from having an extra copy of Chromosome 21.

Normally, a fertilized egg has 23 pairs of chromosomes. In most people with Down syndrome, there is an extra copy of Chromosome 21 (also called trisomy 21 because there are three copies of this chromosome instead of two), which changes the body’s and brain’s normal development.What are the signs and symptoms of Down syndrome?

Even though people with Down syndrome may have some physical and mental features in common, symptoms of Down syndrome can range from mild to severe. Usually, mental development and physical development are slower in people with Down syndrome than in those without the condition.

Intellectual and Developmental Disabilities (IDDs) is a disability that causes limits on intellectual abilities and adaptive behaviors (conceptual, social, and practical skills people use to function in everyday lives). Most people with Down syndrome have IQs that fall in the mild to moderate range of IDDs. They may have delayed language development and slow motor development.

Some common physical signs of Down syndrome include:

  • Flat face with an upward slant to the eye, short neck, and abnormally shaped ears
  • Deep crease in the palm of the hand
  • White spots on the iris of the eye
  • Poor muscle tone, loose ligaments
  • Small hands and feet

There are a variety of other health conditions that are often seen in people who have Down syndrome, including:

  • Congenital heart disease
  • Hearing problems
  • Intestinal problems, such as blocked small bowel or esophagus
  • Celiac disease
  • Eye problems, such as cataracts
  • Thyroid dysfunctions
  • Skeletal problems
  • Dementia—similar to Alzheimer’s
 

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