Prader-Willi Syndrome

Prader-Willi syndrome facts*

*Prader-Willi syndrome facts by John P. Cunha, DO, FACOEP

  • Prader-Willi syndrome (also called Prader-Labhart-Willi syndrome, or PWS) is a complex genetic condition. Infants have weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, individuals may develop an insatiable appetite, which leads to chronic overeating (hyperphagia), obesity, and type 2 diabetes mellitus.
  • Prader-Willi syndrome is caused by the loss of genes in a specific region of chromosome 15, though it is not usually inherited.
  • People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems such as temper tantrums, stubbornness, and compulsive behavior are common. Many have sleep abnormalities.
  • Individuals with PWS have distinctive facial features, short stature, and small hands and feet. Some have fair skin and light-colored hair. Both males and females have underdeveloped genitals. Puberty is delayed or incomplete, and most are infertile.

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, some affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes).

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