Beckwith-Wiedemann syndrome

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


The incidence is reported at ~1:13,000-37,000 live births.


The majority of cases are sporadic while a small proportion (~15%) is autosomal dominant with abnormality related to chromosome 11p15.5. The syndrome carries a well recognized increased risk for the development of neoplasia . Another 10-20 of cases show paternal disomy 11.


History and etymology

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

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