Primrose syndrome

What is Primrose syndrome?

It is a rare genetic syndrome first identified in 1982. There are currently less than 12 cases reported worldwide. A hardening of the outer ear, unique facial features and intellectual disability are defining symptoms of the syndrome. The syndrome is progressive meaning symptoms worsen or develop in their severity over time.

What gene changes cause Primrose syndrome?

Mutations in the ZBTB20 gene are responsible for some of the reported cases of the syndrome. The rest of the cases were the result of de novo or new mutations.

What are the main symptoms of Primrose syndrome?

Unique facial features of the syndrome include a hardening of the outer ear, a large head, and facial features prescribed as dysmorphic- meaning they appear different to normal.

Sparse hair is another physical feature of the syndrome. As is progressie muscle wasting.

In some cases diabetes is a possible symptom, as is a taller height and larger weight.

How does someone get tested for Primrose syndrome?

The initial testing for Primrose 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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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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