Kabuki syndrome

What is Kabuki syndrome?

Kabuki syndrome is a rare genetic disorder and occurs in just 1 in 32,000 births. The condition affects males and females equally. It is characterized by specific facial features, including arched eyebrows and wide-set eyes.

Health conditions associated with Kabuki syndrome may include short stature, immunological abnormalities, and elongated eyes, similar to those painted on the Japanese Kabuki theatre actors - hence the name. In medical terms, this eye form is called palpebral fissures with eversion of the lateral third of the lower eyelid. Up to half of the patients may present with congenital heart defects. Mid-moderate intellectual disability and developmental delay are also a feature of the syndrome.

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What gene changes cause Kabuki syndrome?

Kabuki syndrome is a genetic condition caused by mutations in the KMT2D and KDM6A genes. Recent research suggests that mutations in other genes may also cause the disorder. Kabuki syndrome is very rarely inherited and occurs spontaneously.

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What are the main symptoms of Kabuki syndrome?

The main symptoms of Kabuki syndrome include characteristic facial features such as arched eyebrows, wide-set or misaligned eyes, a flat nasal tip, and large ears. A small mouth or jaw and a possible cleft palate are also features of the genetic condition.

Congenital heart defects may be a symptom of Kabuki syndrome. Other health conditions can include bone abnormalities (short fingers, scoliosis), hypotonia (low muscle tone), hearing problems and/or hearing loss, endocrine issues, dental problems, seizures, and epilepsy. Early puberty in girls may be another symptom.

Individuals with Kabuki syndrome are usually diagnosed with some degree of intellectual disability and/or developmental delay.

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How does someone get tested for Kabuki syndrome?

The initial testing for Kabuki 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


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.


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

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.