Down syndrome is a genetic disorder that is often caused by an abnormality during cell division in early development. As a result, the fertilized egg contains three copies of chromosome 21 instead of two and interferes with normal growth and development.

Individuals with Down syndrome are usually smaller than their peers without disabilities, and their physical and intellectual development is slower. Besides having a distinct physical appearance, children with Down syndrome frequently have specific health-related issues. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

  • A flattened face, especially the bridge of the nose
  • Almond-shaped eyes that slant up
  • A short neck
  • Small ears
  • Small oral cavity
  • Broad feet with short toes
  • A tongue that tends to stick out of the mouth
  • Tiny white spots on the iris (colored part) of the eye
  • Small hands and feet
  • A single line across the palm of the hand (palmar crease)
  • Small pinky fingers that sometimes curve toward the thumb
  • Poor muscle tone or loose joints
  • Shorter in height as children and adults


Health-Related Issues Associated With Down Syndrome:

  • Hearing loss (up to 75% of people with Down syndrome may be affected)
  • Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep (between 50 -75%)
  • Ear infections (between 50 -70%)
  • Eye diseases (up to 60%), like cataracts and eye issues requiring glasses
  • Heart defects present at birth (50%)


Mosaic Down syndrome:  This type of Down syndrome differs from the typical diagnosis is that individuals with the diagnosis have some cells with 3 copies of chromosome 21 and other cells with just two copies of chromosome 21. Children with Mosaic Down syndrome may have the same physical features as other children with Down syndrome, may have more subtle features or may have no physical features common to the diagnosis.


Causes: In most cases, the diagnosis of Down syndrome is made according to results from a chromosome test administered shortly after birth. Although parents of any age may have a child with Down syndrome, the incidence is higher for women older than 35.

Treatment: In most cases, the recommendation for Down syndrome is a combination of behavioral, educational and physical therapies. No single treatment is the answer for every child and good treatment plans will include close monitoring, follow-ups and any changes needed along the way.


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Down Syndrome – Marcus Autism Center. (n.d.). Retrieved January 24, 2015, from

Facts about Down Syndrome. (2014, October 20). Retrieved February 4, 2015, from