Thank you for your interest in the BWS Registry!

The BWS Registry was developed to improve our understanding and management of Beckwith-Wiedemann syndrome (BWS), hemihypertrophy/lateralized overgrowth, and other disorders.

The primary objective of this registry/repository is to store ongoing clinical data and biospecimens to facilitate the conduct of research on disorders of growth, genetic, and epigenetic alterations. This can also include storage of samples and data from relatives of the index patients to serve as study controls.

Families who wish to join the BWS Registry must give us permission (consent) for review of medical records and other optional parts of the study. Optional parts include sharing photographs, samples, and contact preferences. Once a family completes a consent form, each family member will be assigned a unique study number. To protect his/her identity, medical information (and samples as applicable) will be stored with this number.

The Informed Consent Form outlines each part of the study and reviews your choices for optional consents as well. Please click on the presentations to review what is involved in the study as well as the consent form process.

Children and adults with Beckwith-Wiedemann syndrome may be at increased risk for sleep apnea than other children. This risk may be due to a larger tongue size, but currently it is not known how to predict who need to be evaluated for sleep apnea. Some people with Beckwith-Wiedemann syndrome have tongue reduction surgery, but the effect of this procedure on sleep apnea is not known. This study seeks to understand how the upper airway anatomy contributes to sleep apnea in people with Beckwith-Wiedemann syndrome, including after tongue reduction surgery in people who have that procedure. The study includes a physical exam, medical record review (including surgical history), and upper airway MRI. For those participants who have not had a clinical sleep study, one will be done as part of this study.