Fat chance: genetic syndromes with obesity

Clin Genet. 2004 Aug;66(2):83-93. doi: 10.1111/j.0009-9163.2004.00300.x.


Although obesity shows high heritability, we are aware of only a small number of genes that affect adipose mass in humans. Genetic syndromes with obesity represent unique opportunities to gain insight into the control of energy balance. The majority of obesity syndromes can be distinguished by the presence of mental retardation. We performed a systematic search of such syndromes and reviewed the literature with a focus on distinguishing clinical features, the characteristics of their obesity, and the underlying pathogenetic mechanisms. We predict that the study of these conditions will shed light on common forms of obesity.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • Gene Expression
  • Genetic Diseases, X-Linked / complications
  • Humans
  • Intellectual Disability / complications*
  • Obesity / complications*
  • Obesity / genetics*
  • PubMed
  • Syndrome