Opsismodysplasia

What is Opsismodysplasia?

It is a rare genetic syndrome that affects mainly the skeletal system of the body. It is usually diagnosed at birth by its unique and distinct facial features.

What gene changes cause Opsismodysplasia?

The syndrome is caused by changes in the INPPL1 gene.

It is inherited in an autosomal recessive pattern.

What are the main symptoms of Opsismodysplasia?

The main symptoms of the syndrome are congenital, making them present at birth.

These include the unique facial features associated with the syndrome- a large head, a larger space between the front bones of the skull, a prominent forehead, depressed nasal bridge, a small nose and long philtrum. Affected individuals also have short limbs and small hands and feet.

The syndrome also places affected individuals at an increased risk for respiratory issues, infections and consequent failure.

How does someone get tested for Opsismodysplasia?

The initial testing for Opsismodysplasia 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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What is FDNA Telehealth?

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.

Benefits of FDNA Telehealth

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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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FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

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