Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

Eur J Med Genet. 2016 Jan;59(1):52-64. doi: 10.1016/j.ejmg.2015.11.008. Epub 2015 Nov 22.


Beckwith-Wiedemann syndrome (BWS) is the most common (epi)genetic overgrowth-cancer predisposition disorder. Given the absence of consensual recommendations or international guidelines, the Scientific Committee of the Italian BWS Association ( proposed these recommendations for the diagnosis, molecular testing, clinical management, follow-up and tumor surveillance of patients with BWS. The recommendations are intended to allow a timely and appropriate diagnosis of the disorder, to assist patients and their families, to provide clinicians and caregivers optimal strategies for an adequate and satisfactory care, aiming also at standardizing clinical practice as a national uniform approach. They also highlight the direction of future research studies in this setting. With recent advances in understanding the disease (epi)genetic mechanisms and in describing large cohorts of BWS patients, the natural history of the disease will be dissected. In the era of personalized medicine, the emergence of specific (epi)genotype-phenotype correlations in BWS will likely lead to differentiated follow-up approaches for the molecular subgroups, to the development of novel tools to evaluate the likelihood of cancer development and to the refinement and optimization of current tumor screening strategies.

Conclusions: In this article, we provide the first comprehensive recommendations on the complex management of patients with Beckwith-Wiedemann syndrome.

Keywords: Beckwith–Wiedemann syndrome; Cancer predisposition; Follow-up; Overgrowth; Recommendations.

Publication types

  • Practice Guideline
  • Review

MeSH terms

  • Beckwith-Wiedemann Syndrome / diagnosis*
  • Beckwith-Wiedemann Syndrome / genetics
  • Beckwith-Wiedemann Syndrome / physiopathology
  • Beckwith-Wiedemann Syndrome / therapy*
  • Genetic Testing
  • Humans
  • Hypoglycemia / therapy
  • Macroglossia / therapy
  • Neoplasms / diagnosis