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DOWN SYNDROME MEDICAL INFORMATION

Down syndrome is caused by a chromosome abnormality which is called Trisomy 21.  This means that the child is born with 3 chromosome #21s.  This extra chromosome can be free standing or hooked onto another chromosome, in which case it is called a translocation. 

The major problems caused by this condition are

  • Characteristic appearance of face and hands
  • Delayed cognitive development
  • Chronic middle ear infections
  • Cataracts
  • Strabismus (crossed eyes) in 60%
  • Skin problems, particularly rough skin in 90%
  • Constipation
  • Gastroesophageal reflux
  • Obstructive sleep apnea (blockage of the upper airway at night leads to moments of not breathing)
  • Low normal height or short
  • Heart disease in 40%
  • Orthodontic and dental abnormalities

Less common problems include

  • Sensorineural hearing loss
  • Glaucoma (increased pressure inside the eyeball)
  • Hypothyroidism (low thyroid)
  • Atlantoaxial instability in about 15% (unstable spine at the nape of the neck because the bone that sticks up and secures it within the vertebra above is too short)
  • Seizures in 5-10%
  • Celiac disease (sensitivity of the gut to gluten) in 4-7%
  • Leukemia (rare but much more common than in the general population)
  • Alzheimer-type dementia in later life.

Education: Though a vast amount of literature exists on Down syndrome, few web sites or articles say anything about deafblindness. Nevertheless, we have many students with Down syndrome on our Minnesota census.  That these kids have a lot of middle ear infections has been recognized for many years; however, sensorineural hearing loss is rarely mentioned.  

An article about vision and hearing loss in Down syndrome should be helpful to both parents and educators: http://www.tsbvi.edu/Outreach/seehear/summer98/downsynd.htmOpen in new window. Link to a different web site.

Helpful web sites:

http://www.ds-health.com/trisomy.htmOpen in new window. Link to a different web site.

Discussion of trisomy 21 and the chromosome abnormalities.
http://www.sharpseniors.com/a/down-syndrome-statistics-and-resourcesOpen in new window. Link to a different web site.

Down syndrome web page with contributions by parents and professionals.  This site has a listing of societies worldwide that deal with Down syndrome.

http://www.ndss.org/Open in new window. Link to a different web site.
National Down syndrome Society home page.

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