Sturge-Weber syndrome

What is Sturge-Weber syndrome?

It is a rare neurological syndrome. One of its identifying characteristics is a very distinctive port wine stain on the forehead, scalp or around the eye of an affected individual. This stain must be accompanied by abnormal or affected blood vessels on the brain on the same side of the head as the stain. A port wine stain alone is not Sturge-Weber syndrome.

The syndrome is often also referred to, in medical terms, as encephalotrigeminal angiomatosis.

What gene changes cause Sturge-Weber syndrome?

Mutations in the GNAQ gene are responsible for the syndrome. The syndrome is not inherited but the consequence of random or new mutations.

What are the main symptoms of Sturge-Weber syndrome?

The main symptoms of the syndrome are a port wine stain on one side of the face, and abnormal blood vessels in the brain on the same side of the face. Both symptoms must be present for Sturge-Weber to be identified.

These abnormal blood vessels can then trigger a number of other symptoms related to the syndrome. These include seizures and convulsions, development delay (specifically cognitive delay), a weakness on one side of the body and possible paralysis. Around 50% of infected individuals with the syndrome also suffer from glaucoma which is a condition of the eye which can cause pain, a sensitivity to light and issues with vision.

How does someone get tested for Sturge-Weber syndrome?

The initial testing for Sturge-Weber 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.

Medical information on Sturge-Weber syndrome

This information is courtesy of the London Medical Databases, the most comprehensive resource for photos and information regarding syndromes, genes, and clinical phenotypes.

There have been occasional reports in the literature of patients with both NF and Sturge-Weber syndromes (Srivastava et al., 2013). In this latter report the child had a poirt-wine stain over one upper eyelid, his face and palate. He had on MRI scanning pial angiomatosis and basal ganglia hamartomas.. At the age of 7 years he had 19 cafe-au-lait patches of whom 7 were larger than 5mm.. His mother had extensive neurofibromas and cafe-au-lait patches.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

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

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

Accessibility

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.

Accuracy & Precision

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

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!