Beckwith-Wiedemann syndrome

Last revised by Dr Yahya Baba on 26 Oct 2021

Beckwith-Wiedemann syndrome (BWS), recently reclassified as Beckwith-Wiedemann spectrum, is a congenital overgrowth disorder characterized by a unique set of features that can consist of:

The incidence is estimated at around 1:10,000 live births. As such, it is the most common overgrowth and cancer predisposition disorder 8,9. There is no gender or ethnicity predilection.

The majority of cases are sporadic while a small proportion (5-10%) is autosomal dominant with abnormality related to chromosome 11p15.5 (i.e. BWS critical region). The syndrome carries a well-recognized increased risk for the development of neoplasia 4. Another 10-20% of cases show paternal disomy 11, thought to arise from mitotic recombination during early embryogenesis. Phenotypic expression varies widely.

First described independently by JB Beckwith in 1963 and H-R Wiedemann in 1964 6,7.

The following disorders share features with Beckwith-Wiedemann syndrome:

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Cases and figures

  • Case 1: chest radiograph
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  • Case 1: pelvic radiograph
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  • Case 1: scintigraphy
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  • Case 2
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  • Case 3: with bilateral Wilms tumors
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