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Beckwith–Wiedemann syndrome

Part 1. Genetics

1.3. Epigenetics

Specialist Review

  1. Benjamin Tycko1,
  2. Marcel Mannens2

Published Online: 15 NOV 2005

DOI: 10.1002/047001153X.g103213

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Tycko, B. and Mannens, M. 2005. Beckwith–Wiedemann syndrome. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.3:30.

Author Information

  1. 1

    Columbia University, New York, NY, USA

  2. 2

    University of Amsterdam, Amsterdam, The Netherlands

Publication History

  1. Published Online: 15 NOV 2005


Beckwith–Wiedemann syndrome (BWS) is a well-studied human overgrowth disorder, associated with visceromegaly, exomphalos, and predisposition to Wilms tumor and other pediatric cancers. BWS is a clinical syndrome, not a single disorder. Phenotypic heterogeneity is prominent, and we now appreciate that this reflects an underlying molecular heterogeneity. The syndrome can be caused by various molecular defects, which lead to altered expression of certain imprinted genes on chromosome 11p15. Multiple studies have revealed striking epigenotype–phenotype correlations, in which exomphalos tracks with one type of imprinting defect, affecting the CDKN1C gene, while Wilms tumor predisposition tracks with a different imprinting defect, affecting the IGF2 and H19 genes. Here we review the clinical and molecular features of BWS and summarize the data from these recent investigations. We also review the fascinating association of BWS with twinning, and discuss preliminary studies suggesting an increased frequency of BWS in children conceived by in vitro fertilization. Lastly, we provide an update on the more general role of imprinted genes as growth rheostats in mammalian development.


  • Beckwith–Wiedemann syndrome;
  • genomic imprinting;
  • H19 gene;
  • IGF2 gene;
  • CDKN1C gene;
  • PHLDA2 gene;
  • KvDMR1;
  • LIT1;
  • omphalocele;
  • Wilms tumor;
  • in vitro fertilization (IVF);
  • assisted reproductive technology (ART)