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Down Syndrome

This is a genetic syndrome caused by having an extra copy of Chromosome 21. At conception, a fertilized egg usually has 23 pairs of chromosomes. In Down Syndrome there are 3 copies of genetic material on Chromosome 21. This changes the normal development of the brain and body.

Typical signs and symptoms of Down Syndrome include

  • Mild to moderate decrease in IQ
  • Low muscle tone
  • Developmental delays

 Typical physical signs of:

  • Flat face with an upward slant to the eyes, short neck, and abnormally shaped ears
  • A single deep crease in the palm of the hand
  • White spots on the iris of the eye
  • Small hands and feet

 Associated health conditions can include:

  • Heart defects
  • Hearing problems
  • Intestinal problems such as blocked small intestine or esophagus
  • Celiac disease (sensitivity to gluten)
  • Eye problems, such as cataracts
  • Thyroid dysfunctions
  • Skeletal problems
  • Dementia-similar to Alzheimer’s

 Down Syndrome cannot be cured. However, there are interventions that can allow the child to function at their optimal level.

These include:

  • Speech, Occupational, and Physical therapies
  • Special education classes

 Risk factors for Down Syndrome include

  • Advancing age of the mother, especially after 35
  • Already having had a child with Down Syndrome
  • Parents who themselves have an abnormality with Chromosome 21

External Resources

National Down Syndrome Society

Erlanger Resources

Pediatric Neurology