Recognize Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is a rare genetic disorder. While its prevalence is low, PWS is the most common genetic human obesity ­syndrome. PWS is a multisystemic disorder that affects growth, eating patterns, metabolism, sexual development, cognitive function, and behavior. In the United States, the incidence of PWS is approximately one in 10,000 to 29,000 live births, and the prevalence is estimated at one in 52,000.1 PWS is found in all races and both sexes.1,2 The disorder is caused by a defect in specific regions of chromosome 15 (Figure 1). PWS causes neonatal and infantile hypotonia (poor muscle tone), feeding and weight gain concerns during infancy, rapid weight gain as toddlers, hyperphagia (food foraging and obsession with food), hypogonadism (low testosterone), developmental delays, intellectual disability, distinctive facial features, and certain oral and dental abnormalities (Table 1).1,3

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