Genetics of obesity and overgrowth syndromes

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):207-20. doi: 10.1016/j.beem.2010.09.010.


Childhood overweight and obesity is highly prevalent within society. In the majority of individuals, weight gain is the result of exposure to an 'obesogenic' environment, superimposed on a background of genetic susceptibility brought about by evolutionary adaptation. These individuals tend to be tall in childhood with a normal final adult height, as opposed to those who have an underlying monogenic cause where short stature is more common (although not universal). Identifying genetic causes of weight gain, or tall stature and overgrowth, within this setting can be extremely problematic and yet it is imperative that clinicians remain alert, as identification of a genetic diagnosis has major implications for the individual, family and potential offspring. Alongside this, the recognition of new genetic mutations in this area is furthering our knowledge on the important mechanisms that regulate childhood growth and body composition. This review describes the genetic syndromes associated with obesity and overgrowth.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Arrhythmias, Cardiac / genetics
  • Beckwith-Wiedemann Syndrome / genetics
  • Body Composition / genetics
  • Congenital Hypothyroidism / genetics
  • Craniofacial Abnormalities / genetics
  • Fertilization in Vitro / adverse effects
  • Genetic Diseases, X-Linked
  • Genetic Predisposition to Disease
  • Gigantism / genetics
  • Hamartoma Syndrome, Multiple / genetics
  • Hand Deformities, Congenital / genetics
  • Heart Defects, Congenital / genetics
  • Homocystinuria / genetics
  • Humans
  • Intellectual Disability / genetics
  • Klinefelter Syndrome / genetics
  • Marfan Syndrome / genetics
  • Obesity / etiology
  • Obesity / genetics*
  • Overweight / genetics*
  • Pro-Opiomelanocortin / genetics
  • Proprotein Convertases / genetics
  • Sotos Syndrome / genetics
  • Syndrome
  • Weight Gain / genetics


  • Pro-Opiomelanocortin
  • Proprotein Convertases

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome
  • Weaver syndrome