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Obes Rev. 2017 Jun;18(6):603-634. doi: 10.1111/obr.12531. Epub 2017 Mar 27.

A systematic review of genetic syndromes with obesity.

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Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
British Columbia Children's Hospital Research Institute, Vancouver, Canada.
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.


Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and involves the co-presentation of other characteristics, such as mental retardation, dysmorphic features and organ-specific abnormalities. Previous reviews on obesity have reported 20 to 30 syndromes but no systematic review has yet been conducted on syndromic obesity. We searched seven databases using terms such as 'obesity', 'syndrome' and 'gene' to conduct a systematic review of literature on syndromic obesity. Our literature search identified 13,719 references. After abstract and full-text review, 119 relevant papers were eligible, and 42 papers were identified through additional searches. Our analysis of these 161 papers found that 79 obesity syndromes have been reported in literature. Of the 79 syndromes, 19 have been fully genetically elucidated, 11 have been partially elucidated, 27 have been mapped to a chromosomal region and for the remaining 22, neither the gene(s) nor the chromosomal location(s) have yet been identified. Interestingly, 54.4% of the syndromes have not been assigned a name, whereas 13.9% have more than one name. We report on organizational inconsistencies (e.g. naming discrepancies and syndrome classification) and provide suggestions for improvements. Overall, this review illustrates the need for increased clinical and genetic research on syndromes with obesity.


disease heterogeneity; genetic elucidation; quality of evidence; syndromic obesity

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