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Prader–Willi syndrome

rare genetic disorder

Key facts

Other names: Prader–Labhart–Willi-Fanconi syndrome
Pronunciation: / ˈ p r ɑː d ər ˈ v ɪ l i / , / ˈ p r eɪ d ər w ɪ l i / , / ˈ p r ɑː d ər ˈ w ɪ l i /
Specialty: Genetics, endocrinology, pediatrics
Symptoms: Babies : weak muscles , poor feeding, slow development , Children : constantly hungry, intellectual impairment , behavioural problems
Usual onset: occurs at or near the time of conception for unknown reasons
Duration: Lifelong
Types: Three main molecular mechanisms result in PWS: paternal deletion, maternal UPD 15, and imprinting defects
Causes: Genetic disorder (typically new mutation)
Diagnostic method: Genetic testing
Treatment: Feeding therapy, physical therapy, occupational therapy, strict food supervision, exercise program, counseling
Medication

Article

Eight-year-old patient with a severe form of PWS

Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. In babies, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children.