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Beckwith-Wiedemann Syndrome (BWS)

Last updated May 4, 2018

Beckwith-Wiedemann Syndrome (BWS) is an inherited genetic disorder characterized by an abnormal overgrowth of the body parts.


What are the other Names for this Condition? (Also known as/Synonyms)

  • EMG Syndrome
  • Exomphalos-Macroglossia-Gigantism Syndrome
  • WBS (Wiedemann-Beckwith Syndrome)

What is Beckwith-Wiedemann Syndrome? (Definition/Background Information)

  • Beckwith-Wiedemann Syndrome (BWS) is an inherited genetic disorder characterized by an abnormal overgrowth of the body parts
  • Children born with this condition are larger than normal, and have manifestations like abdominal wall defect, large-sized tongue, and low blood sugar. BWS also makes them highly susceptible to many childhood cancers
  • The causative factor of BWS is described as a genetic defect, called genomic imprinting, in which some expressions of a parent gene remain inactive, and are not expressed in the child
  • Most children who survive the initial phase of the syndrome, have a good outcome

Who gets Beckwith-Wiedemann Syndrome? (Age and Sex Distribution)

  • Beckwith-Wiedemann Syndrome is a condition that manifests itself at birth. The global incidence is about 1 in 14,000, and 85% of the cases occur at random (sporadic occurrences)
  • There is no known predilection towards any particular gender or racial group

What are the Risk Factors for Beckwith-Wiedemann Syndrome? (Predisposing Factors)

The risk factors for Beckwith-Wiedemann Syndrome include the following:

  • Children conceived using in-vitro fertilization, or by other artificial procedures, seem to be at a higher risk of BWS, than a normally conceived child
  • Children born in families with a history of BWS may be more vulnerable

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Beckwith-Wiedemann Syndrome? (Etiology)

  • The presence of chromosomal aberrations and gene mutations on a part of chromosome 11, have pointed to genetic factors, as the probable cause of Beckwith-Wiedemann Syndrome
  • Chromosome 11 of the child is affected, as certain expressions of the parent gene (mother's or father's) remain inactive; a process known as genetic imprinting
  • Sometimes, these defective genes are inherited from the parents, or sometimes normal genes stop functioning in the prenatal stage sporadically, leading to BWS. Researchers do not know the reason why the genes suddenly stop functioning
  • The disorder may have a mild, moderate, or serious expression; depending on the magnitude of the defect

What are the Signs and Symptoms of Beckwith-Wiedemann Syndrome?

The signs and symptoms of Beckwith-Wiedemann Syndrome are categorized into major or minor features. These are:

  • Major features: Abdominal wall defects causing internal organs to push themselves out of the belly button, large-sized tongue that causes breathing and feeding problems, abnormally large body at birth
  • Minor features: Creases at the earlobes, blood vessel defect called port-wine stain (often seen as a red birthmark), low blood sugar (hypoglycemia), enlarged kidney (renomegaly), asymmetrical body (one body side/part, is bigger than the other)
  • Apart from these, the infant may have large eyes, undescended testicles (cryptorchidism), small head size (microcephaly), enlarged liver (hepatomegaly), enlarged spleen (splenomegaly), be lethargic, and suffer epileptic seizures (convulsions)

How is Beckwith-Wiedemann Syndrome Diagnosed?

On physical examination, a child should be present with more than two major and three minor features to be defined as affected with Beckwith-Wiedemann Syndrome. The other diagnostic tools include:

  • Evaluation of patient’s medical history
  • Blood tests for electrolytes
  • Genetic analysis
  • MRI, CT scan (abdominal)
  • X-ray studies (of the skeletal system)
  • Abdominal ultrasound scan

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Beckwith-Wiedemann Syndrome?

The complications from Beckwith-Wiedemann Syndrome could include:

  • High susceptibility to many benign or malignant childhood tumors; like rhabdomyosarcoma, Wilms tumor, hepatoblastoma
  • Obstruction of large tongue causes respiratory and feeding problems. It also limits the space required for teeth and jaw growth, and impairs speech
  • Severe umbilical hernia, due to abdominal wall defect

How is Beckwith-Wiedemann Syndrome Treated?

Treatment measures for Beckwith-Wiedemann Syndrome include the following:

  • Treating signs and symptoms, as they occur
  • Abdominal wall defect is surgically repaired and corrected
  • Low blood glucose level has to be immediately treated (usually through oral or intravenous feeding) to prevent brain damage
  • Surgical intervention may be required to reduce the size of the tongue (a procedure called partial glossectomy), if breathing and feeding problems are severe
  • Orthopedic treatment and therapy may be required to treat body asymmetry
  • Individuals with this condition have to regularly undergo screening for cancer

How can Beckwith-Wiedemann Syndrome be Prevented?

  • Currently there are no specific methods or guidelines to prevent Beckwith-Wiedemann Syndrome genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for  treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Beckwith-Wiedemann Syndrome? (Outcomes/Resolutions)

  • Current medical and healthcare advances have helped those suffering from Beckwith-Wiedemann Syndrome. Children with the abnormality can have a normal quality of life, with prompt treatment of medical issues that arise
  • Mental or intellectual growth is usually not affected, but some may have speech problems
  • The initial period of infancy requires close monitoring, in order to prevent any complications
  • Severe cases of BWS can be fatal, particularly if the abdominal wall defect, low blood sugar, large sized internal organs, or respiratory problems are serious

Additional and Relevant Useful Information for Beckwith-Wiedemann Syndrome:

According to CDC, achieving pregnancy by artificial means (where the egg and sperm are fertilized outside of the body), increases the chances of Beckwith-Wiedemann Syndrome by 3-4 times, when compared to getting pregnant through natural conception.

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: June 19, 2013
Last updated: May 4, 2018

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