Down Syndrome

(DS; Trisomy 21)

Definition

Down syndrome is a common genetic disorder. Down syndrome causes birth defects, medical problems, and some degree of intellectual disability.

Causes

Chromosomes contain the genetic makeup of your body. They occur in 23 pairs within the body. Down syndrome is a problem with chromosome pair 21. There is extra genetic material on the chromosome that may be caused by:
  • An extra chromosome—This type is called Trisomy 21. This results from an error in cell division in the egg or sperm.
  • Extra chromosomes in some cells—This type is called Mosaic Trisomy 21.
  • Part of the chromosome breaking off and reattaching to another chromosome—This type is called translocation trisomy. In about one third of individuals, the translocation is inherited from a parent.

Risk Factors

Factors that increase the chance for Down syndrome include:
  • Genetics—If either parent is a carrier of Translocation Down syndrome, there is an increased risk.
  • Age—The chance of having a child with Down syndrome increases after a woman reaches age 35.
  • Gender—More boys than girls are born with Down syndrome.
  • History of a previous child with Down syndrome.

Symptoms

Infants born with Down syndrome may have some or all of the following physical features:
  • Flat facial features, a somewhat depressed nasal bridge and a small nose
  • Upward slanted eyes, small skin folds on the inner corner of the eyes
  • Short neck with loose skin
  • Misshaped and/or low set ears
  • White spots on the colored part of the eye
  • Single skin crease in the palm of the hand
  • Excess flexibility in joints
  • Sight and hearing problems
  • Large and protruding tongue
  • Excessive space between the large and second toe
The degree of medical problems and intellectual disability is different for each person. Talents, abilities, and pace of development will be different, too. People with Down syndrome may be born with or develop:
  • Vision problems
  • Hearing loss
  • Heart defects
  • Acute leukemia
  • Frequent ear infections
  • Instability of the back bones at the top of the neck, can result in compression injury of the spinal cord
  • Gastrointestinal obstruction
  • Hirschsprung disease,celiac disease
  • Sleep problems such as blocked airways during sleep, daytime sleepiness, sleep anxiety, and sleep walking
  • Increased incidence of dementia in older adults
  • Urinary system defects
  • High blood pressure in the lungs
  • Seizures
  • An under-active thyroid
  • Slow growth
  • Late to sit, walk, and toilet train
  • Speech problems
  • Obesity
  • Emotional problems
Most of these health problems are treatable. The majority of people born with Down syndrome have a life expectancy of about 55 years.

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