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November 24, 2009
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Prader-Willi Syndrome

What is Prader-Willi syndrome?

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite and chronic overeating (hyperphagia). As a result, most experience rapid weight gain leading to obesity. People with Prader-Willi syndrome typically have mental retardation or learning disabilities and behavioral problems. Many people with this disorder also have distinctive facial features and short stature. The genitals in both males and females are underdeveloped, and most affected individuals are unable to conceive children (infertile). Additionally, some people with Prader-Willi syndrome have unusually fair skin and light-colored hair.



Next: How common is Prader-Willi syndrome? »

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Prader-Willi Syndrome

What are genetic professionals and what do they do?

Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses.

What is genetic counseling and evaluation?

Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic professionals:

  • Assess the risk of a genetic disorder by researching a family's history and evaluating medical records.
  • Weigh the medical, social and ethical decisions surrounding genetic testing.
  • Provide support and information to help a person make a decision about testing.
  • Interpret the results of genetic tests and medical data.
  • Provide counseling or refer individual...

Read the Genetic Counseling article »









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