Beckwith-Wiedemann syndrome

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. doi: 10.1002/ajmg.c.30058.


Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. BWS provides an ideal model system to study epigenetic mechanisms. This condition is caused by a variety of genetic or epigenetic alterations within two domains of imprinted growth regulatory genes on human chromosome 11p15. Molecular studies of BWS have provided important data with respect to epigenotype/genotype-phenotype correlations; for example, alterations of Domain 1 are associated with the highest risk for tumor development, specifically Wilms' tumor. Further, the elucidation of the molecular basis for monozygotic twinning in BWS defined a critical period for imprint maintenance during pre-implantation embryonic development. In the future, such molecular studies in BWS will permit enhanced medical management and targeted genetic counseling.

Publication types

  • Review

MeSH terms

  • Beckwith-Wiedemann Syndrome* / diagnosis
  • Beckwith-Wiedemann Syndrome* / embryology
  • Beckwith-Wiedemann Syndrome* / genetics
  • Beckwith-Wiedemann Syndrome* / therapy
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 11 / genetics
  • Genomic Imprinting / genetics
  • Humans
  • Twins, Monozygotic / genetics