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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.

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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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Risk Factors  

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

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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:
  • Learning disabilities
  • Sleep problems
  • Fatigue
  • High threshold for pain
  • Insensitivity to temperature extremes
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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.