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The University of Southampton
Wessex Imprinting GroupInformation for patients

Beckwith Wiedemann Syndrome

The three main characteristics of this condition are:

People may also have:


Genetic Causes

This condition is due to altered expression of imprinted genes on chromosome 11. The most common causes are loss of methylation causing over expression of a growth repressor molecule called CDKN1C (50% of cases), or paternal UPD of chromosome 11 in a proportion of cells (approximately 20%) or too much methylation (hypermethylation) causing over expression of the growth factor IGF2 (approximately 5%). Some cases are inherited through the generations either because of mutations in the gene CDKN1C or chromosome rearrangements involving chromosome 11.

Useful Links - GeneReviews


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