Prader-Willi syndrome

Abstract

Prader-Willi syndrome (PWS) is a genetic condition caused by a partial deletion of the 15th paternal chromosome. Persons with PWS have a broad range of signs and symptoms. The infant has problems feeding associated with hypotonia, but by 2–4 years of age there is the development of lifelong insatiable appetite often leading to morbid obesity if not strictly managed. Significant behavior problems with temper tantrums and stubbornness also begin around 2–4 year of age. Other features include short stature, characteristic facial features, under-developed genitalia, hypotonia, skin picking, difficulty with vomiting, and often mild intellectual disability. The intensity and range of signs and symptoms of PWS requires the help of a large variety of professionals, and is aided by a PWS interdisciplinary team where available. With careful management of weight and behaviors and with considerable effort, persons with PWS can live longer and healthier lives.