Abstract
Prader-Willi syndrome is one of the most common micro-deletion syndromes ("contiguous gene syndrome".) It is a complex genetic disease including hypotonia in infancy, mental retardation, hypogonadotropic hypogonadism, short stature, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. PWS is an example of a genetic condition involving genomic imprinting.
In this article are described the clinical manifestations, diagnostic criteria, posible genetic testing and management.