Raine syndrome

What is Raine syndrome?

It is a rare genetic syndrome with severe symptoms. Many infants with the condition are stillborn or die soon after birth. Recently there have been two cases of children with the syndrome surviving into early childhood, suggesting there may be a milder form of the syndrome. The syndrome has been reported in eight families, most of them having been of Middle Eastern origin. In many of the cases, the parents of the affected children were related by blood.

What gene changes cause Raine syndrome?

Mutations in the FAM20C gene are responsible for the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

What are the main symptoms of Raine syndrome?

Unique facial features of the syndrome include a small head, a depressed nasal bridge, small nose, low-set ears, a sunken midface, and a triangular shaped mouth. Exophthalmos, bulging out of the eyes, is a common symptom. Individuals tend also to have enlarged gums.

A main symptom of the syndrome is osteosclerosis, a hardening of the bones. Individuals may also have ribs that are formed irregularly.

How does someone get tested for Raine syndrome?

The initial testing for Raine 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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