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Prader-Willi Syndrome 

Prader-Willi Syndrome
Prader-Willi Syndrome

Shawn E. Mccandless

and Suzanne B. Cassidy

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date: 24 February 2021

Prader–Willi syndrome (PWS {OMIM 176270}) is a multisystem disorder with a recognizable pattern of physical findings and major neurologic, cognitive, endocrine, and behavioral abnormalities. Newborns have profound hypotonia, feeding difficulties, and poor weight gain. Later, they develop hyperphagia leading to obesity if not externally controlled, short stature, characteristic physical appearance, developmental disability, and a typical pattern of behavior problems that includes obsessive–compulsive traits. Management centers on external control of food intake to avoid obesity, medical treatment of endocrine abnormalities, special educational programming, and behavior management techniques. Confirmation of a clinical diagnosis is by demonstration of lack of biparental expression of genes in the PWS critical region on chromosome 15q11-q13. Multiple genes in the regions are potential candidates for causing the phenotype, including the SnoRNA cluster SNORD116 and MAGEL2, with growing evidence that the full phenotype is likely due to the effect of more than one gene.

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