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Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study

Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype including many endocrine and metabolic abnormalities. We and others have reported abnormal body composition (excess body fat accumulation with a lipedema phenotype), decreased bone mineral density, and abnormal glucose tolerance. Additionally, we have shown that adults with WS have reduced lean mass. Despite the high prevalence and potential effect of metabolic abnormalities on the health of persons with WS, their full phenotypic range, potential causal factors (either genetic and/or hormonal) along with their impact on other aspects of health (such as risk of falls and fractures or interaction with emotional behavioral concerns) remain incompletely characterized. The purpose of the current study in a large cohort of subjects with WS is to: collect further information to characterize the timing of onset and distribution of body fat; better characterize hormonal status of WS subjects; and screen for genetic variation using single-nucleotide-polymorphism (SNP) analysis that could elucidate genetic contributors to the lipedema phenotype as well as the other metabolic and bone abnormalities we have observed.

Sponsored by: Massachusetts General Hospital