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Genetic and Rare Diseases Information Center (GARD)

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Beckwith-Wiedemann syndrome

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Other Names for this Disease

  • EMG Syndrome
  • Exomphalos macroglossia gigantism syndrome
  • Wiedemann-Beckwith Syndrome (WBS)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My daughter was adopted at birth and diagnosed with Beckwith-Wiedemann syndrome.  She is now 21 years old and just became pregnant.  When she was 15 months old she did have hepatoblastoma and has an omphalocele minor that I am worried may cause problems as her belly stretches. I am a concerned mother wondering if there is any chance of her baby having Beckwith-Wiedemann syndrome or any problems related to the syndrome.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are the chances that an individual with Beckwith-Wiedemann syndrome will have an affected child?

The chance that a person with BWS will have an affected child varies depending on the underlying cause. The genetics of Beckwith-Wiedemann syndrome (BWS) are complex.  BWS usually results from the abnormal regulation of genes in a specific region of chromosome 11 which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome. Sometimes chromosome abnormailities, such as a rearrangement (translocation) or abnormal copying (duplication) of genetic material, can disrupt the regulation of key genes.  In both of these cases, the risk that a person with BWS will have a child with this condition appears to be very low.  Beckwith-Wiedemann syndrome, however, can also be caused by a direct mutation in the CDKN1C gene. In these cases, and also in situations where there is a family history of BWS, the risk that a child will also have BWS is up to 50%.[1]

The Beckwith-Wiedemann Syndrome Support Group provides detailed information on the genetics of BWS.
Last updated: 11/5/2012

Are there any complications in pregnancy known to exist for individuals with Beckwith-Wiedemann syndrome?

After an extensive search of the resources available to us, we were unable to find information on the effects of pregnancy on individuals with BWS. You may be able to obtain information from the Beckwith-Wiedemann Children's Foundation. We recommend that you speak with your personal health care provider to help you make decisions during pregnancy.
Last updated: 10/27/2011

References
Other Names for this Disease
  • EMG Syndrome
  • Exomphalos macroglossia gigantism syndrome
  • Wiedemann-Beckwith Syndrome (WBS)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.