Beckwith-Wiedemann syndrome (BWS)

What is Beckwith-Wiedemann syndrome (BWS)?

Beckwith-Wiedemann syndrome is a genetic and congenital (present at birth) overgrowth disorder that leads to a predisposition to tumors, and in some cases cancer.

A large body size (macrosomia) is characteristic of this rare disease.

Its severity varies between individuals, and while it is thought to occur in 1 in 11,000 births, this figure may actually be higher due to under diagnosis of the syndrome in less severe cases.

What gene changes cause Beckwith-Wiedemann syndrome (BWS)?

Changes to the genes in chromosome 11, specifically on the region of the chromosome known as 11p15. In 85% of cases the change or mutation is spontaneous, with no known family history. In 15% of cases the condition is inherited, and passed from parent to child.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Beckwith-Wiedemann syndrome (BWS)?

The main symptoms of Beckwith-Wiedemann syndrome include a large birth weight and length. As well as a red birthmark on the forehead or eyelids, and creases in the earlobes.

A large tongue, also known as macroglossia is also characteristic of the disorder. As is overgrowth on one side or one part of the body.

Other health conditions associated with the syndrome include defects in the abdominal wall, causing hernias, enlarged abdominal organs, and a high predisposition to childhood cancers.

How does someone get tested for Beckwith-Wiedemann syndrome (BWS)?

The initial testing for Beckwith-Wiedemann syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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