ZNF462-Related Disorder

What is ZNF462-Related Disorder?

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome.

What gene changes cause ZNF462-Related Disorder?

The gene responsible for the disorder is the ZNF462 gene.

What are the main symptoms of ZNF462-Related Disorder?

The main emerging symptoms of the syndrome include developmental delay, and in some cases individuals also receive a diagnosis of autism spectrum disorder.

Unique facial features of the syndrome include drooping eyelids (ptosis), downward slanting eyelids, a wide philtrum (the space between the nose and the upper lip) and arched eyebrows.

Feeding issues and difficulties are common with the syndrome.

How does someone get tested for ZNF462-Related Disorder?

The initial testing for ZNF462-Related Disorder 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.

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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.


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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