Apert syndrome

What is Apert syndrome?

Apert syndrome is a genetic condition which triggers the premature fusing of the skull bones in a child. It occurs in anywhere between 60-80,000 live births.

The main symptoms of the syndrome relate to the skull and the premature fusing of the skull bones. However this rare disease triggers a wider variety of symptoms, affecting multiple areas of the body.

What gene changes cause Apert syndrome?

While the exact cause of the syndrome is still unknown, it is believed that mutations to the FGFR2 gene during early pregnancy may be responsible but research is still ongoing. The syndrome may be inherited or occur as the result of a de novo mutation. Parents with the syndrome have a 50% of passing the syndrome onto their children.

What are the main symptoms of Apert syndrome?

The majority of the most severe symptoms are the result of the premature fusing of the skull bones.

These symptoms include a tall skull, prominent forehead, smaller than normal lower jaw, prominent eyes, small nose and fused fingers and toes.

Other health conditions related to the syndrome include delayed mental development, vision problems, a cleft palate, recurrent ear infections and consequent hearing loss, breathing issues, hyperactive sweat glands and severe acne in puberty.

How does someone get tested for Apert syndrome?

The initial testing for Apert 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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