Temple syndrome

What is Temple syndrome?

It is a rare genetic syndrome that presents with a variety of symptoms. These symptoms include growth delay, issues with feeding, motor development delay and unique facial features.

The syndrome occurs in less than 1 in 1 million live births. The syndrome was only discovered fairly recently and research is still ongoing.

What gene changes cause Temple syndrome?

The syndrome is known as an imprinting disorder. It is caused by changes to the genes on chromosome 14.

The syndrome is inherited in an autosomal dominant pattern, or is the result of a de novo mutation and the first case in a family.

What are the main symptoms of Temple syndrome?

One of the main symptoms of the syndrome is growth delay- both before and after birth. This is usually followed by feeding difficulties during infancy as well as low muscle tone and delayed motor developmental. In some cases intellectual disability is also a sign of the syndrome.

Unique facial characteristics of the syndrome include a prominent forehead, a shore nose with a wide tip, downward turning corners of the mouth, a small jaw and a high palate.

Other symptoms include obesity, that presents in childhood, premature puberty and bone anomalies that include other unique physical features such as small hands and feet.

How does someone get tested for Temple syndrome?

The initial testing for Temple 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.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.


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