Weaver syndrome (WVS)

What is Weaver syndrome (WVS)?

Weaver syndrome is characterized by excessive physical growth in an individual, this rapid osseous growth usually starts prenatally.

Males have been found to be three times more likely to be affected by the syndrome than females.

What gene changes cause Weaver syndrome (WVS)?

It is caused by mutations in the EXH2 gene, and though most mutations are are mutations, it can also be inherited in an autosomal dominant pattern.

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.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Weaver syndrome (WVS)?

Rapid growth is the main symptom. This may include a tall head, but not in every case. Faster bone development is part of this rapid growth.

Other physical features include increased muscle tone, exaggerated reflexes, and the slower development of voluntary movements.

Babies with the syndrome have a distinct, hoarse, low pitched cry.

Unique facial features of the syndrome include very wide set eyes, eye folds, a flat back of the head, thin hair, a broad forehead, very large ears, a smaller jaw, broad thumbs, bent fingers, a very high arch, malformed toes and a clubfoot.

How does someone get tested for Weaver syndrome (WVS)?

The initial testing for Weaver syndrome (WVS) 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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