Beckwith-Wiedemann Syndrome Research

The Children’s Hospital of Philadelphia (CHOP) has started a Beckwith-Wiedemann Syndrome (BWS) and 11p Overgrowth Spectrum patient registry to systematically study the many unanswered questions facing children and families with these conditions. By gathering and storing clinical data and blood and tissue samples from patients, we hope to improve understanding of the BWS spectrum.

Any infant, child, or adult presenting with a disorder of growth that is suggestive of the BWS spectrum will be eligible to participate. The registry-repository is an ongoing effort.

Beckwith-Wiedemann Syndrome (BWS) and 11p Overgrowth Spectrum (a group of related disorders caused by epigenetic and genetic changes on chromosome 11) are the most common examples of overgrowth syndromes that lead to disease. There are many clinical issues facing BWS patients and their families, including risk of tumor formation, enlarged organs, large tongues, hypoglycemia, and asymmetry of body growth.
While some children with BWS have a number of recognizable features associated with the syndrome, other children can present with very few or very subtle features, including overgrowth of one side of the body (hemihypertrophy).

The risk of tumor development and additional health concerns not previously recognized in children and adults with BWS is not clear. We hope this research will help us better understand these risks, for example, why some genetic changes are more likely to lead to tumor development than others. Furthermore, how the specific genetic changes that cause BWS lead to the clinical features — specifically, to the overgrowth and tumor formation — is not well understood.

In addition to developing a BWS patient registry, we are studying how the genetic changes that cause BWS can lead to different features. We have developed and are using human cell-based and animal models to study this question.

This research, which includes work by Marisa Bartolomei, PhD, at the University of Pennsylvania, studies how epigenetic changes in BWS are established and maintained during development. The work of Jennifer Kalish, MD, PhD, further focuses on how the genetic and epigenetic changes that cause BWS lead to cancer. The goal of all of these efforts is to improve care for patients with BWS and related disorders using the knowledge gained from these models.

For more information about BWS research, please contact us at BWS@chop.edu.