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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
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Overview

Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Affected infants are larger than normal and are taller than their peers during childhood. Growth slows down in several years, and affected adults are not unusually tall. Some children have asymmetric growth which usually becomes less apparent over time. Other signs and symptoms may include an omphalocele or other abdominal wall defect at birth; low blood sugar (hypoglycemia) in infancy; an abnormally large tongue (macroglossia); abnormally large abdominal organs; creases or pits in the skin near the ears; and kidney abnormalities. Affected children have an increased risk to develop tumors, particularly Wilms tumor and hepatoblastoma. BWS may be caused by several types of genetic changes, but in about 85% of cases only one person in a family is diagnosed with the disorder.[1]
Last updated: 8/24/2015

References

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

  • Genetics Home Reference (GHR) contains information on Beckwith-Wiedemann syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Beckwith-Wiedemann syndrome. Click on the link to view a sample search on this topic.
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.