Prader-Willi and other syndromes associated with obesity and mental retardation

M. Gunay-Aygun, S. B. Cassidy, R. D. Nicholls

Research output: Contribution to journalReview articlepeer-review

58 Scopus citations


Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders. Although hypothalamic-pituitary axis abnormalities are thought to be a possible causative mechanism in some of these disorders, current knowledge is insufficient to explain the pathophysiologic mechanism of obesity in most multiple congenital anomaly/mental retardation syndromes. The chromosomal location of many of these syndromes is known, and studies are ongoing to identify the causative genes. Further delineation of the functions of the underlying genes will likely be instructive regarding mechanisms of appetite, satiety, and obesity in the general population. This review details current knowledge of the clinical and molecular genetic findings of multiple congenital anomaly mental retardation syndromes associated with intrinsic obesity in an effort to delineate causative mechanisms and genetic abnormalities contributing to obesity.

Original languageEnglish (US)
Pages (from-to)307-324
Number of pages18
JournalBehavior Genetics
Issue number4
StatePublished - 1997
Externally publishedYes


  • Albright hereditary osteodystrophy
  • Bardet-Biedl syndrome
  • Cohen syndrome
  • Genetic imprinting
  • Mental retardation
  • Obesity
  • Prader-Willi syndrome

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Genetics(clinical)


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