Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is group of symptoms caused by a rare genetic disorder. It can cause a variety of problems with growth and development.

  • Causes

    PWS is caused by a random genetic defect. The defect is most often caused by a gene from the father.

    Genetic Material
    Chromosome DNA
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  • Definition

    Prader-Willi syndrome (PWS) is group of symptoms caused by a rare genetic disorder. It can cause a variety of problems with growth and development.

  • Diagnosis

    The doctor may suspect PWS based on your child's symptoms. Some symptoms are general. They may be associated with other types of illness. As a result, the diagnosis may not be made until early childhood.

    A genetic test can help to confirm the diagnosis. This test is done with a sample of blood.

  • Prevention

    There are no guidelines for preventing PWS.
    Some side effects may be preventable with treatment.

  • Risk Factors

    There are no known risk factors. About 1% may have a family history.

  • Symptoms

    Some physical features common in people with PWS include:

    • Almond-shaped eyelid openings
    • Misalignment of the eyes
    • Thin upper lip
    • Downturned mouth
    • Narrow forehead
    • Small hands and feet

    Other symptoms of PWS can change as the child ages.

    As an infant, the child may have:

    • Difficulty feeding
    • Slow growth
    • Inability to suck well
    • A weak, squeaky cry
    • Sleepiness

    As a toddler, symptoms may include:

    • Delay of normal development, such as language skills and walking
    • Behavior problems, such as temper tantrums and stubbornness
    • Short stature compared to family
    • Increased appetite

    As the child gets older, additional symptoms may include:

    • Insatiable hunger

    • Continuing behavior problems, such as:

      • Anger and inflexibility
      • Difficulty with transitions
      • Mood swings
      • Obsessive-compulsive
        habits
    • Learning disabilities
    • Sleep problems
    • Fatigue
    • High threshold for pain
    • Insensitivity to temperature extremes

  • Treatment

    PWS will require lifetime treatment. It is managed by the caregivers of children with PWS. Key areas of treatment include:

    Early intervention can help to address delays in physical skills, speech, and language. The program can also assist as your child moves through school.