Prader–Willi syndrome: clinical features and management

Abstract Prader Willi syndrome is a rare genetic disorder associated with extreme obesity, short stature, and learning disability. There is a characteristic behavioural phenotype. Understanding of the genetic mechanisms has expanded in recent years as new laboratory techniques have been developed. Nowadays the clinical diagnosis is normally made in infancy. Management focuses on improving nutrition in the early months, then restricting calories to limit rapid weight gain. Several endocrine problems are encountered and these are discussed. There is increasing experience of growth-hormone therapy both to increase longitudinal growth but also to improve body composition and possibly improve mobility.