Prader–Willi syndrome: genotype, cause, phenotype and management

Abstract

Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic condition that results in a range of phenotypic features including hypotonia, hyperphagia and behavioural difficulties. PWS is caused by the paternal loss of imprinting genes from the chromosome 15q11.2-13. If left unmanaged, the central obesity caused by hyperphagia and the behavioural features such as foraging and stealing of foods will dominate the life of the person with PWS and his/her family, resulting in practical and psychological difficulties. In this article, Delia Pogson outlines the pathogenesis of this rare disorder and discusses the multidisciplinary approach required to manage and treat this condition.