Cherubism

What is Cherubism?

This rare disease is a genetic condition currently diagnosed in 200 individuals worldwide, to date.

Individuals with cherubism have very distinct facial features.

The syndrome is believed to be two times more common in males than females.

What gene changes cause Cherubism?

Changes in the SH3BP2 gene are responsible for the syndrome. The syndrome is inherited in an autosomal dominant pattern.

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 Cherubism?

The main symptom of the syndrome is due to abnormal bone tissue in the jaw. Beginning in childhood the bone in the upper and lower jaws of affected individuals is replaced by painless, cyst like growths.
This growth usually stabilizes with the onset of puberty. It may also be mild to severe depending on the individual. Individuals with severe symptoms may also suffer from breathing and feeding difficulties due to these changes to the jaw.

Other symptoms of the condition may include upturned eyes, and premature loss of primary teeth.

How does someone get tested for Cherubism?

The initial testing for Cherubism 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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FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

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