Prader-Willi syndrome

Eur J Hum Genet. 2009 Jan;17(1):3-13. doi: 10.1038/ejhg.2008.165. Epub 2008 Sep 10.

Abstract

Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child Behavior Disorders / genetics
  • Child Behavior Disorders / therapy
  • Child, Preschool
  • Chromosomes, Human, Pair 15 / genetics
  • Developmental Disabilities / genetics
  • Developmental Disabilities / therapy
  • Female
  • Genetic Counseling
  • Human Growth Hormone / therapeutic use
  • Humans
  • Hypogonadism / therapy
  • Infant
  • Male
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / therapy
  • Obesity / genetics
  • Obesity / therapy
  • Phenotype
  • Prader-Willi Syndrome* / diagnosis
  • Prader-Willi Syndrome* / genetics
  • Prader-Willi Syndrome* / physiopathology
  • Prader-Willi Syndrome* / therapy
  • Psychotic Disorders / genetics
  • Psychotic Disorders / therapy
  • Young Adult

Substances

  • Human Growth Hormone