Down Syndrome

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.

  • Definition

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

  • Diagnosis

    Doctors can usually identify a child born with Down syndrome at birth. When Down syndrome is suspected, a blood test will be done to confirm it.

    Down syndrome may also be diagnosed before birth. There are screening tests and diagnostic tests to help identify chromosome abnormalities before birth.

  • Prevention

    There are no guidelines for preventing Down syndrome. If you have concerns about having a child with Down syndrome, consider getting genetic counseling before becoming pregnant.

  • 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.
    • Sex: 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
    • 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
      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.

  • Treatment

    There is no cure for Down syndrome.

    Some newborns may need surgery to repair serious medical problems, like heart defects.

    Treatment may be needed for severe problems or to help with developmental delays. Living at home and receiving special therapy helps children with Down syndrome achieve their full potential. Most people with the condition can actively participate in the community. This includes activities at schools, jobs, and various leisure activities. Some people with Down syndrome live with family, some live with friends, and some live independently.