Noonan syndrome

What is Noonan syndrome?

A genetic disorder that presents with unusual facial characteristics and short stature. Health conditions associated with this disorder include eczema, developmental delay, short stature, webbed neck, pulmonic stenosis, and unique facial features. It is an inherited genetic condition, and just one copy of the mutated gene in each cell is enough to cause the disorder.

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What gene changes cause Noonan syndrome?

Noonan syndrome is part of a group of related conditions known as RASopathies. Changes in one of several autosomal-dominant genes cause the syndrome. Around half of all cases are caused by mutations in the PTPN11 gene, with a further 10-15% of cases caused by SOS1 gene mutations. Mutations in the RAF1 and RIT1 genes are accounting for around 5% of cases And a further 15-20% of cases present with cause unknown. The PTPN11, SOS1, RAF1, and RIT1 genes are responsible for providing the instructions for making proteins needed for cell division and growth. Mutations in the genes associated with Noonan syndrome cause this protein to be active longer than normal rather than switching on and off in response to cell signals. This then disrupts cell growth regulation and leads to characteristic clinical features of Noonan syndrome.

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What are the main symptoms of Noonan syndrome?

The main symptoms of Noonan syndrome include characteristic facial features such as a deep groove between the nose and mouth, widely spaced eyes that are often pale blue or blue-green, and low-set ears rotated backward. A high arch in the roof of the mouth, a small lower jaw, and excess neck skin or webbing are also all characteristic of the syndrome. Children with Noonan syndrome are often both a normal length and weight at birth, but their growth slows over time. Individuals with the syndrome may also have a sunken or protruding chest.

Congenital heart disease can also be a symptom of Noonan syndrome, specifically a narrowing of the valve that controls blood flow from the heart to the lungs. Individuals may also present twitch hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle.

Eczema and bleeding disorders are also a dominant symptom of Noonan syndrome leading to excessive bruising and nosebleeds.

Noonan syndrome leads to delayed puberty in male adolescents and possible infertility related to undescended testes.

Most individuals with Noonan syndrome are of normal intelligence, but a developmental delay is a common symptom. Vision and hearing problems are also potential symptoms.

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How does someone get tested for Noonan syndrome?

The initial testing for Noonan 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.