Williams-Beuren syndrome (WBS)

What is Williams-Beuren syndrome (WBS)?

Williams-Beuren syndrome is a genetic condition that presents with a characteristic face. Health conditions associated with this developmental disorder include heart defects and especially supravalvular aortic stenosis. Mild to moderate intellectual disability or learning problems and often unique personality traits characterize this condition. Patients often have a typical face for this syndrome, which includes a wide mouth, prominent lips, and a small nose. The disorder is rare and occurs in approximately 1 in 10,000 people.

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What gene changes cause Williams-Beuren syndrome (WBS)?

The deletion of genetic material from a specific region of Chromosome 7 is understood to cause Williams-Beuren syndrome. The genes typically deleted include CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1. The deletion of these genes, and possibly others too, is understood to contribute to the unique behavioral characteristics and other cognitive difficulties of those with Williams-Beuren syndrome. The syndrome is not usually inherited but occurs during the formation of reproductive cells in the parent of the affected individual. However, individuals with the condition have a 50% chance of the condition being inherited by their future children.

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What are the main symptoms of Williams-Beuren syndrome (WBS)?

The main symptoms of Williams-Beuren syndrome include characteristic facial features such as a wide mouth, small upturned nose, widely spaced teeth, and full lips. ADD, anxiety, and phobias are common in individuals with the syndrome, as are learning disorders and speech delays. Infants may present with colic and feeding problems, as well as low birth weight and muscle tone. Other physical health conditions may include short stature, farsightedness, and a sunken chest. Kidney abnormalities are also a symptom of the syndrome.

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How does someone get tested for Williams-Beuren syndrome (WBS)?

The initial testing for Williams-Beuren 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. 

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 and AI (Artificial intelligence) company operating in the rare disease and genetic condition field. FDNA has developed a portfolio of AI-based technologies for screening, diagnostics and support for rare genetic analysis. As a precision medicine solution, FDNA Telehealth assists patients and their families stranded or paused within their diagnostic odyssey.

Benefits of FDNA Telehealth

Credibility

Our facial recognition diagnostic technology is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients. FDNA has over 8 years of extensive experience in researching and developing solutions for rare genetic condition analysis.

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors - within 24 hours if requested. Eliminate the wait for answers and prevent delays in your diagnostic journey.

Ease of use

As a virtual care platform, FDNA Telehealth provides a seamless process that accompanies parents and families from initial diagnosis reports, to meetings with genetic counselors, to clinical consultations with geneticists, genetic testing, and beyond.

Accuracy & Precision

Every analysis we run provides a list of suggested syndromes updated and recalculated with every new parameter added by you or our clinicians. Our unique decision support tool uses advanced artificial intelligence capabilities and technology that provides a 90% accuracy rate in detecting the correct phenotype.

Value for
Money

With a unique combination of advanced AI technology and diagnostic tools, FDNA Telehealth provides faster access to genetic counselors, geneticists, and genetic testing, all to bring you
closer to a diagnosis.

Privacy & Security

FDNA Telehealth uses advanced technologies to protect your personal health information (PHI). Our decision support tool compliant with HIPAA and the European Union (EU) data privacy rules and standards, including General Data Protection Regulation (GDPR).

Over 400 million people are living with a rare disease globally, but most of them are misdiagnosed or paused within their diagnostic odyssey. Get a faster and more accurate analysis with FDNA Telehealth.