Prader-Willi syndrome

Introduction. Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder with neurologic, metabolic, endocrine and behavioral disturbances. The usual consequence of this is numerous respiratory disorders, most of the times it is obstructive sleep apnoea even without severe obesity. Even during the day lungs are not sufficiently ventilated. This occurs because of congenital muscular hypotonia, failing respiratory muscles, scoliosis, kyphoscoliosis or frequently - obesity.

Summary

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder due to loss of expression of paternally expressed genes from an imprinted region 15q11.2-q13. Loss of expression of SNORD116 gene cluster was recently described as a cause.