Beckwith-Wiedemann syndrome (BWS) is a complex overgrowth syndrome with multiple clinical features and genetic causes. Here we provide information for patients, families, and health care providers about BWS. This information highlights current information about BWS and provides additional information about ongoing research.

Information Sheets

Developed for patients, families, and physicians, these information sheets provide specific information and education and Beckwith-Wiedemann syndrome (BWS).

Overview – This sheet provides an overview of the clinical and molecular diagnosis, management, and tumor screening guidelines in Beckwith-Wiedemann syndrome (BWS).

Molecular Causes - This sheet provides an overview of the various causes of BWS and molecular tests available.

  • IC2 LOM – Designed for patients with BWS due to loss of methylation/hypomethylation at imprinting control region 2 (IC2 LOM), this sheet explains the specific cause, tumor risk associated with the cause, and screening recommendations.
  • IC1 GOM - Designed for patients with BWS due to gain of methylation/hypermethylation at imprinting control region 1 (IC1 GOM), this sheet explains the specific cause, tumor risk associated with the cause, and screening recommendations.
  • pUPD11 - Designed for patients with BWS due to paternal uniparental disomy of chromosome 11p (pUPD11), this sheet explains the specific cause, tumor risk associated with the cause, and screening recommendations.
  • CDKN1C mutation - Designed for patients with BWS due to a CDKN1C mutation, this sheet explains the specific cause, tumor risk associated with the cause, and screening recommendations.
  • Tumor Risk and Screening - This sheet provides an overview of the tumor risk for each molecular subtype, managing tumor risk, types of tumors commonly seen in BWS, tumor screening guidelines and interpretation of AFP values.
  • Macroglossia and OSA - This sheet provides information about macroglossia (an enlarged tongue), specialists that can evaluate and manage macroglossia, tongue reduction, and obstructive sleep apnea (OSA).
  • Lateralized Overgrowth (Hemihypertrophy) - This sheet provides the definition, causes, molecular testing, mosaicism, management, and screening recommendations for patients with body asymmetry (lateralized overgrowth).

Hypoglycemia - The sheet provides information on the diagnosis and management of hypoglycemia and hyperinsulinism and what causes it in patients with Beckwith-Wiedemann syndrome (BWS).

The BWS Educational Coloring Book

Developed through conversations with families of children with Beckwith-Wiedemann Syndrome (BWS), this coloring book includes simple illustrations and easy-to-understand descriptions of the genetic and epigenetic causes of BWS, as well as information on managing BWS.

Educational Video

This video, an animated version of the BWS coloring book, provides an introduction to the genetics and epigenetics of BWS, an explanation of the characteristics of BWS, and tips for managing BWS.

Additional Information

BWS Clinic at CHOP

Research