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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Beckwith-Wiedemann syndrome


Other Names for this Disease
  • EMG Syndrome
  • Exomphalos macroglossia gigantism syndrome
  • Wiedemann-Beckwith Syndrome (WBS)
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Inheritance


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Can Beckwith-Wiedemann syndrome be inherited?

In approximately 85 percent of cases of Beckwith-Wiedemann syndrome, there is no family history prior to the individual who has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition.[1][2]

Another 10 to 15 percent of people with Beckwith-Wiedemann syndrome are part of families with more than one affected family member. In most of these families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is typically sufficient to cause the disorder. Occasionally, a person with the altered gene will not have any of the characteristic signs and symptoms of the condition.[1][2]

Rarely, Beckwith-Wiedemann syndrome results from particular changes in the structure of a chromosome. Some of these chromosomal abnormalities are inherited from a parent, while others occur as random events during the formation of reproductive cells (eggs and sperm) or in the earliest stages of development before birth.[1][2]

Identifying the underlying cause of Beckwith-Wiedemann syndrome for an individual allows for a better assessment of recurrence risk.

Last updated: 10/27/2011

References
  1. US National Library of Medicine. Beckwith-Wiedemann syndrome. Genetics Home Reference. April, 2008; http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome. Accessed 10/19/2011.
  2. Shuman C, et al. Beckwith-Wiedemann Syndrome. GeneReviews. December 14, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1394/. Accessed 10/24/2011.