Abstract
Purpose of Review:
Williams syndrome (WS) is a multi-system disorder caused by a microdeletion on chromosome 7q. Throughout infancy, childhood, and adulthood, abnormalities in body composition and in multiple endocrine axes may arise for individuals with WS. This review describes the current literature regarding growth, body composition, and endocrine issues in WS with recommendations for surveillance and management by the endocrinologist, geneticist, or primary care physician.
Recent Findings:
In addition to known abnormalities in stature, calcium metabolism, and thyroid function, individuals with WS are increasingly recognized to have low bone mineral density, increased body fat, and decreased muscle mass. Furthermore, recent literature identifies a high prevalence of diabetes and obesity starting in adolescence, and, less commonly, a lipedema phenotype in both males and females. Understanding the mechanisms by which haploinsufficiency of genes in the WS deleted region contributes to the multi-system phenotype of WS continues to evolve.
Summary:
Multiple abnormalities in growth, body composition, and endocrine axes may manifest in individuals with WS. Individuals with WS should have routine surveillance for these issues in either the primary care setting or by an endocrinologist or geneticist.
