Clinical

Syndromes: Prader-Willi syndrome

A series about conditions with common symptoms that constitute syndromes A series about conditions with common symptoms that constitute syndromes

A series about conditions with common symptoms that constitute syndromes

Prader-Willi syndrome (PWS) described in 1956 by Prader, Labhart and Willi is often referred to as Prader-Labhart-Willi syndrome, PWS or Willi-Prader syndrome. It is a complex genetic disorder (Bar et al 2017) characterised by excessive obesity with individuals often weighing more than 200% of their recommended weight (Napolitano et al 2010).

PWS affects both sexes equally across all races. Affected infants present with hypotonia and feeding difficulties resulting in poor weight gain, failure to thrive and sleepiness (Bar et al 2017, McCandless and The Committee on Genetics 2011). Between 12-18 months approximately, there is evidence of an insatiable appetite referred to as hyperphagia leading to obesity and characteristic behavioural difficulties (McCandless and The Committee on Genetics 2011). Other characteristics include short stature and hypogonadism. In some cases, a learning

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