Prader-Willi Syndrome (cont.)

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).

What are the signs, symptoms, and features of Prader-Willi syndrome?

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People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper tantrums, stubbornness, and compulsive behavior. Many affected individuals also have sleep abnormalities.

Additional features of this condition include distinctive facial features, short stature, and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).

Medically Reviewed by a Doctor on 4/18/2014

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