Down Syndrome

What is Down Syndrome?

Down Syndrome is a chromosomal condition associated with the 21st chromosome. Most cases of Down Syndrome result from each cell in the body having 3 copies of the 21st chromosome rather than the usual 2 copies. Less commonly, Down Syndrome occurs when the 21st chromosome attaches to another chromosome during fetal development.

People experiencing Down Syndrome may exhibit the following characteristics:

  • Physical characteristics:
    • Small flat nose
    • Almond shaped eyes with an upward slant
    • Smaller ears
    • Short neck
    • Larger tongue
    • Smaller limbs and body frame
    • Lower muscle tone
  • Many people with Down Syndrome are born with increased health concerns such as:
    • Heart defects
    • Digestive abnormalities
    • Increased risk of gastroesophageal reflux
    • Increased risk of celiac disease
    • Underactive thyroid
    • Increased risk of hearing and vision problems
    • Increased risk of Alzheimer’s, starting in their 50s
  • People born with Down Syndrome often experience developmental delays in language and speech.
  • Behavioural concerns may include: a limited attention span or obsessive compulsive behaviours.