Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype including many endocrine and metabolic abnormalities. Dr. Pober and colleagues at MGH have reported the following findings in adults with WS: abnormal body composition (excess body fat accumulation with a lipedema phenotype), decreased bone mineral density, abnormal glucose tolerance, and 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 observed metabolic and bone abnormalities.

For those participating in-person at Massachusetts General Hospital:

Inclusion Criteria

1. Male or Female age 18-70 years old
2. Diagnosis of Williams syndrome (WS), established by experienced clinician, parent report, or confirmed by genetic testing such as FISH (fluorescent in situ hybridization) or chromosomal microarray (WS only)
3. Availability of a parent or guardian to review details of the study with their family member with WS and participate in the consent process (all WS regardless of age)
4. Availability of a parent or guardian to provide selected medical information (WS only)

Exclusion Criteria

1. History of weight loss surgery or liposuction
2. Positive urine pregnancy test (females only)
3. Obesity or abnormal fat distribution due to a known secondary cause (except WS) such as Cushing syndrome, HIV-infection, etc.

Dr. Pober and colleagues plan to include 30 individuals with Williams syndrome (WS) who participate at Massachusetts General Hospital, along with 25-30 matched control individuals, as well as 50 individuals with WS who participate at conventions related to WS, and 100 individuals with WS who participate remotely.

A limited and de-identified dataset may be available to other researchers at the conclusion of the study.