Sifrim-Hitz-Weiss syndrome

What is Sifrim-Hitz-Weiss syndrome?

It is a rare congenital genetic syndrome that presents with intellectual disability, developmental delay and unique facial features.

What gene changes cause Sifrim-Hitz-Weiss syndrome?

Changes in the CHD4 gene are responsible for the syndrome.

The condition is not inherited but the result of de novo, or new gene mutations during reproduction.

What are the main symptoms of Sifrim-Hitz-Weiss syndrome?

Developmental delay and intellectual disability are two main symptoms of the syndrome. Speech delay is also common with the syndrome. However the severity of all of these symptoms can vary between affected individuals.
Health conditions associated with the syndrome include brain and heart defects. Although again these can vary in their presentation and severity between affected individuals.
A large head is also a common symptom, as are varying unique facial features although these are not always specific to the syndrome.

How does someone get tested for Simpson-Golabi-Behmel syndrome, Type 1?

The initial testing for Simpson-Golabi-Behmel syndrome, Type 1 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.

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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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Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

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