Paula and Bobby
Parents of Lillie
Cerebral Tumours and Arteriovenous Malformations
What is Cerebral Tumours and Arteriovenous Malformations?
Cerebral Tumours and Arteriovenous Malformations is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
There have been about a dozen cases, all single, of a cerebrovascular malformation associated with a cerebral tumour in the same patient. Some present with evidence of a bleed, whereas others present with raised intracranial pressure. The tumours have ranged from astrocytomas to ganglioneuromas, and they are geographically distinct from the vascular lesion.
* This information is courtesy of the L M D.
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What gene changes cause Cerebral Tumours and Arteriovenous Malformations?
The syndrome is inherited in the following inheritance pattern/s:
Sporadic - In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Cerebral Tumours and Arteriovenous Malformations?
The typical symptoms of the syndrome are:
How does someone get tested for Cerebral Tumours and Arteriovenous Malformations?
The initial testing for Cerebral Tumours and Arteriovenous Malformations can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.
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
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.
Ease of Use
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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We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.