Prader-Willi Syndrome

(Prader-Labhart-Willi Syndrome)

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.

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
Copyright © Nucleus Medical Media, Inc.

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

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.

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