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Beckwith–Wiedemann Syndrome

  • Living reference work entry
  • First Online:
Encyclopedia of Pathology

Part of the book series: Encyclopedia of Pathology ((EP))

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Synonyms

Beckwith syndrome; BWS; Exomphalos-macroglossia-gigantism syndrome or EMG syndrome; Omphalocele-visceromegaly-macroglossia syndrome; Overgrowth syndrome; Visceromegaly-umbilical hernia-macroglossia syndrome; Wiedemann–Beckwith syndrome

Definition

Beckwith–Wiedemann syndrome, first described by Dr. J. Bruce Beckwith and Dr. Hans-Rudolf Wiedemann in the 1960s, is a multiorgan disorder which commonly presents at birth with overgrowth manifestations (e.g., macrosomia, macroglossia, exophthalmos, organomegaly, and gigantism) and developmental abnormalities including a number of abdominal wall defects (e.g., omphalocele, umbilical hernia, and diastasis recti). Affected patients have an increased risk of childhood cancers including embryonal primitive-type tumors such as Wilms tumor (nephroblastoma), hepatoblastoma, rhabdomyosarcoma, and gonadoblastoma. From a neoplastic endocrine perspective, adrenocortical carcinoma and pheochromocytoma have also been reported. The syndrome is...

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References and Further Reading

  • Beckwith, J. B. (1969). Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects Original Article Series, V(2), 188–196.

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  • Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., et al. (2018). Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement. Nature Reviews. Endocrinology, 14, 229–249.

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  • Duffy, K. A., Cielo, C. M., Cohen, J. L., Gonzalez-Gandolfi, C. X., Griff, J. R., Hathaway, E. R., et al. (2019). Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 181(4), 693–708.

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  • Fukuzawa, R., Hata, J., Hayashi, Y., Ikeda, H., & Reeve, A. E. (2003). Beckwith-Wiedemann syndrome-associated hepatoblastoma: Wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy. Pediatric and Developmental Pathology, 6(4), 299–306.

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  • Morison, I. M., Becroft, D. M., Taniguchi, T., Woods, C. G., & Reeve, A. E. (1996). Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nature Medicine, 2(3), 311–316.

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  • Mussa, A., Russo, S., De Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., et al. (2016). (Epi) genotype-phenotype correlations in Beckwith-Wiedemann syndrome. European Journal of Human Genetics, 24, 183–190.

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  • Popov, S. D., Sebire, N. J., & Vujanic, G. M. (2016). Chapter 1: Wilms’ tumour – Histology and differential diagnosis. In M. M. van den Heuvel-Eibrink (Ed.), Wilms tumor [Internet]. Brisbane: Codon Publications. From: https://www.ncbi.nlm.nih.gov/books/NBK373364/

  • Shuman, C., Beckwith, J. B., & Weksberg, R. (2000). Beckwith-Wiedemann syndrome [Updated 2016 Aug 11]. In M. P. Adam, H. H. Ardinger, R. A. Pagon, et al. (Eds.), GeneReviews® [Internet] (pp. 1993–2019). Seattle: University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1394/

  • Stefan, Y., Bordi, C., Grasso, S., & Orci, L. (1985). Beckwith-Wiedemann syndrome: A quantitative, immunohistochemical study of pancreatic islet cell populations. Diabetologia, 28(12), 914–919.

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  • Weksberg, R., Shuman, C., & Beckwith, J. (2010). Beckwith–Wiedemann syndrome. European Journal of Human Genetics, 18, 8–14.

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Author information

Authors and Affiliations

  1. Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada

    Sara Pakbaz, Anjelica Hodgson & Ozgur Mete

  2. Department of Pathology, University Health Network, Toronto, ON, Canada

    Sara Pakbaz, Anjelica Hodgson & Ozgur Mete

  3. Endocrine Oncology Site, The Princess Margaret Cancer Centre, Toronto, ON, Canada

    Ozgur Mete

Authors
  1. Sara Pakbaz
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  2. Anjelica Hodgson
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  3. Ozgur Mete
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Corresponding author

Correspondence to Ozgur Mete .

Editor information

Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

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Pakbaz, S., Hodgson, A., Mete, O. (2020). Beckwith–Wiedemann Syndrome. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5214-1

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  • DOI: https://doi.org/10.1007/978-3-319-28845-1_5214-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

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