Craniosynostosis, Adelaide Type (CRSA)

What is Craniosynostosis, Adelaide Type (CRSA)?

Craniosynostosis itself is a condition, present at birth, whereby the bones of a baby’s skull fused together prematurely before the brain has fully developed. This in turn leads to a skull that is abnormally shaped as the brain grows.

It is closely linked to Saethre-chotzen syndrome and Pfeiffer syndrome.

What gene changes cause Craniosynostosis, Adelaide Type (CRSA)?

There is no definitive gene yet identified as known to be causing the syndrome.

It is inherited in an autosomal dominant pattern.

What are the main symptoms of Craniosynostosis, Adelaide Type (CRSA)?

Hallux valgus- an abnormality concerning the joint of the big toe. It can lead to arthritis.
Abnormalities of the carpal bones located in the wrist.
Abnormalities of the fingers and fingernails.
Abnormalities in the bones of the feet.
Craniosynostosis- where the skull bones of a baby join together too early creating skull abnormalities.

How does someone get tested for Craniosynostosis, Adelaide Type (CRSA)?

The initial testing for Craniosynostosis, Adelaide Type 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.

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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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