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Prader Willi Syndrome

Abstract

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NORD is very grateful to Suzanne Cassidy, MD, Clinical Professor of Pediatrics, Division of Medical Genetics, University of California, San Francisco, for assistance in the preparation of this report.

Synonyms of Prader Willi Syndrome

  • Prader-Labhart-Willi syndrome
  • PWS
  • Willi-Prader syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset of obesity. The food compulsion requires constant supervision. Individuals with severe obesity may have an increased risk of cardiac insufficiency, sleep apnea, diabetes, and other serious conditions that can cause life-threatening complications. All individuals with PWS have some cognitive impairment that ranges from low normal intelligence with learning disabilities to mild to moderate intellectual disability. Behavioral problems are common and can include temper tantrums, obsessive/compulsive behavior, and skin picking. Motor milestones and language development are often delayed. PWS occurs due to abnormalities affecting certain genes in a specific region of chromosome 15. These abnormalities usually result from random (sporadic) errors in development, but are sometimes inherited.

Introduction
Originally described in the medical literature in 1956, PWS is the first disorder confirmed to be due to imprinting errors (see Causes section). It is the most common genetic cause of life-threatening childhood obesity. The disorder was once known as hypogonadism, hypotonia, hypomentia, obesity (HHHO).

Organizations related to Prader Willi Syndrome

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