Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Beckwith-Wiedemann Syndrome Associated Childhood Tumors

  • Marcel Mannens
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_575-2

Definition

Beckwith-Wiedemann syndrome (BWS) is a complex overgrowth disorder caused by a number of genes that are subject to genomic imprinting. A high incidence of solid childhood tumors is seen in patients that present with BWS.

Characteristics

Diagnostic Criteria

Beckwith-Wiedemann syndrome is a disorder first described by Beckwith in 1963 at the 11th annual meeting of the Western Society for Pediatric Research. Later, Wiedemann and Beckwith described the syndrome in more detail (Beckwith 1969). BWS is characterized by a great variety of clinical features, among which are abdominal wall defects, macroglossia, pre- and postnatal gigantism, earlobe pits or creases, facial nevus flammeus, hypoglycemia, renal abnormalities, and hemihypertrophy. BWS patients have a high risk (4.2–25 %, on average 8.6 %) of developing (mostly intra-abdominal) childhood tumors. Tumors most frequently found are Wilms tumor(WT), adrenocortical carcinoma (ACC), rhabdomyosarcoma (RMS), and hepatoblastoma...

Keywords

Familial Adenomatous Polyposis Imprint Gene Adrenocortical Carcinoma Adenomatous Polyposis Coli Gene Uniparental Disomy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.

References

  1. Beckwith J (1969) Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. Birth Defects 5:188–196Google Scholar
  2. Bliek J, Gicquel C, Maas S et al (2004) Epigenotyping as a tool for the prediction of tumour type and tumour risk in Beckwith-Wiedemann syndrome patients. J Pediatr 145:796–799CrossRefPubMedGoogle Scholar
  3. Eggermann T, Algar E et al (2014) Clinical utility card for: Beckwith-Wiedemann syndrome. Eur J Hum Genet 22(3). doi:10.1038/ejhg.2013.132. Epub 3 July 2013Google Scholar
  4. Steenman M, Westerveld A, Mannens M (2000) Genetics of Beckwith-Wiedemann syndrome associated tumors: common genetic pathways. Genes Chromosom Cancer 28:1–13CrossRefPubMedGoogle Scholar
  5. Wiedemann H (1964) Complexe malformatif familial avec hernie ombilicale et macroglossie, un ‘syndrome nouveau’. J Genet Hum 13:223–232PubMedGoogle Scholar

See Also

  1. (2012) FOXO1A. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1447. doi:10.1007/978-3-642-16483-5_2256Google Scholar
  2. (2012) P53. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2747. doi:10.1007/978-3-642-16483-5_4331Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Academic Medical CentreUniversity of AmsterdamAmsterdamThe Netherlands