Fontaine Progeroid syndrome

What is Fontaine Progeroid syndrome?

This rare disease is a genetic syndrome that is often diagnosed before birth.

One of the main symptoms of the syndrome is a severe growth retardation both before and after birth.

The life expectancy of many individuals with the condition is short, with many individuals not living past infancy or early childhood.

What gene changes cause Fontaine Progeroid syndrome?

Mutations in the SLC2SA24 are responsible for causing the syndrome. In most cases the syndrome is caused by de novo mutations.

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 Fontaine Progeroid syndrome?

The main symptom of the syndrome is delayed growth, both pre and post birth. This also leads to a failure to thrive, which in many cases can be very severe.

The absence of subcutaneous fat and premature ageing are defining and serious features of the condition.

Facial features of the syndrome include a triangulate face and broad nasal bridge.

Genital abnormalities are common, as are hernias.

How does someone get tested for Fontaine Progeroid syndrome?

The initial testing for Fontaine Progeroid 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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