Beckwith-Wiedemann Syndrome (BWS)

What is Beckwith-Wiedemann Syndrome (BWS)?

Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth and an increased risk of developing certain childhood cancers. The hallmark of BWS is prenatal and postnatal overgrowth, which is often accompanied by macroglossia (enlarged tongue), abdominal wall defects (such as omphalocele), hemihyperplasia (asymmetric growth), and organomegaly (enlarged internal organs). In BWS, patients may also experience neonatal hypoglycemia and a predisposition to Wilms tumor and hepatoblastoma. More information about BWS may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases.

What is the prevalence of Beckwith-Wiedemann Syndrome (BWS)?

The estimated incidence of BWS is 1 in 10,000 to 15,000 live births worldwide, though this may vary depending on geographic and ethnic populations.

How is Beckwith-Wiedemann Syndrome (BWS) diagnosed?

BWS is diagnosed based on clinical criteria and genetic testing. Diagnosis involves evaluating for major features (such as macroglossia, omphalocele, and hemihyperplasia) and minor features (such as ear creases/pits or organomegaly), often using a clinical scoring system. Confirmation is achieved through molecular testing for abnormalities in the 11p15.5 chromosomal region, which regulates growth-related genes.

Is there any specific gene/pathway in Beckwith-Wiedemann Syndrome (BWS) that has been identified?

BWS is associated with epigenetic and genetic alterations on chromosome 11p15.5, specifically affecting genes like IGF2, H19, CDKN1C, and KCNQ1OT1. These genes regulate growth and cell cycle control. Most cases involve abnormalities in imprinting control regions (IC1 and IC2), leading to overexpression of growth-promoting genes or loss of growth-inhibiting gene expression.

How is Beckwith-Wiedemann Syndrome (BWS) treated?

There is currently no cure for BWS, but management involves monitoring and treating complications. This includes surgical correction of abdominal wall defects, management of macroglossia, and regular tumor screening (e.g., abdominal ultrasound and alpha-fetoprotein testing during early childhood). Multidisciplinary care involving genetics, surgery, endocrinology, and oncology is often needed. More information on treatment may be found here: https://rarediseases.org/rare-diseases/.

Are there any clinical trials underway for Beckwith-Wiedemann Syndrome (BWS)?

The National Institutes of Health (NIH) has completed 2 clinical trials for BWS. Currently, there are 4clinical trials underway focusing on cancer surveillance strategies, growth modulation, and genomic/epigenetic therapies. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/.

How can RareShare be helpful to Beckwith-Wiedemann Syndrome (BWS) patients and families?

The BWS community has 8 members. There is currently 1 active discussion underway. New discussions can help connect patients, health workers, caregivers, and families interested in BWS and provide them with continual access to community resources. Join the Beckwith-Wiedemann Syndrome (BWS) RareShare community here: https://rareshare.org/communities/beckwith-wiedemann-syndrome