Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Beckwith-Wiedemann syndrome


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

Inheritance

Newline Maker

Is Beckwith-Wiedemann syndrome inherited?

In about 85% percent of cases of Beckwith-Wiedemann syndrome (BWS), only one person in a family has been diagnosed. However, the parents of an affected child may be at risk of having other affected children; the risk depends on the underlying genetic cause in each case.

About 10% to 15% of affected people are part of families with more than one affected person. In most of these families, the condition appears to be inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the disorder. In most of these cases, the affected person inherits the genetic change from their mother. In some cases, a person inherits the mutated gene but does not have symptoms of the disorder.

Rarely, BWS results from abnormalities of the structure of chromosome 11. Some of these chromosome abnormalities are inherited from a parent, while others occur randomly during the formation of eggs and sperm, or very early in fetal development.[1]

In order to assess the recurrence risk for BWS in a family, the underlying cause needs to be identified.
Last updated: 8/24/2015

References
  1. Beckwith-Wiedemann syndrome. Genetics Home Reference. June, 2015; http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome.


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