Growth, body composition, and endocrine issues in Williams syndrome

Abstract

Purpose of review: Williams syndrome is a multisystem 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 Williams syndrome. This review describes the current literature regarding growth, body composition, and endocrine issues in Williams syndrome 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 Williams syndrome 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 male and female individuals. Understanding of the mechanisms by which haploinsufficiency of genes in the Williams syndrome-deleted region contributes to the multisystem phenotype of Williams syndrome continues to evolve.

Summary: Multiple abnormalities in growth, body composition, and endocrine axes may manifest in individuals with Williams syndrome. Individuals with Williams syndrome should have routine surveillance for these issues in either the primary care setting or by an endocrinologist or geneticist.

Figure 1:

Lipedema phenotype in an adult woman with WS. Left panel shows whole body dual-energy x-ray absorptiometry (DXA) scan, with yellow indicating fat mass, red indicating lean mass, and blue indicating bone mass. Right panel shows clinical photograph while seated. In both the DXA scan and the photograph, characteristic “cuffing” of subcutaneous fat is seen at the ankles, with the feet spared from fat accumulation. Reprinted with permission from Shaikh et al. (18); copyright John Wiley & Sons Ltd.