DefinitionPrader-Willi syndrome (PWS) is group of symptoms caused by a rare genetic disorder. It can cause a variety of problems with growth and development.
CausesPWS is caused by a random genetic defect. The defect is most often caused by a gene from the father.
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Risk FactorsThere are no known risk factors. About 1% may have a family history.
SymptomsSome 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
- Difficulty feeding
- Slow growth
- Inability to suck well
- A weak, squeaky cry
- 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
- Insatiable hunger
- Continuing behavior problems, such as:
- Anger and inflexibility
- Difficulty with transitions
- Mood swings
- Obsessive-compulsive habits
- Learning disabilities
- Sleep problems
- High threshold for pain
- Insensitivity to temperature extremes
DiagnosisThe 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.
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