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How is Kabuki syndrome diagnosed?

See how Kabuki syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Kabuki syndrome

Kabuki syndrome diagnosis

Kabuki syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by distinct facial features, developmental delays, intellectual disabilities, and various other health issues. Diagnosing Kabuki syndrome can be challenging due to its wide range of symptoms and the need for specialized medical expertise.



Clinical Evaluation:



The first step in diagnosing Kabuki syndrome is a thorough clinical evaluation by a healthcare professional experienced in genetic disorders. The doctor will review the individual's medical history, conduct a physical examination, and assess the presence of characteristic features associated with Kabuki syndrome. These features may include:




  • Arched eyebrows with sparse or absent lateral third

  • Long palpebral fissures with eversion of the lateral third of the lower eyelid

  • Depressed nasal tip with a broad and prominent nasal root

  • Large, prominent, or cupped ears

  • Short stature

  • Skeletal abnormalities

  • Cardiac anomalies

  • Intellectual disabilities

  • Hearing loss

  • Immunological issues



Genetic Testing:



After a clinical evaluation, genetic testing is typically recommended to confirm the diagnosis of Kabuki syndrome. The most common genetic cause of Kabuki syndrome is a mutation in the KMT2D gene, also known as the MLL2 gene. Another gene called KDM6A is also associated with Kabuki syndrome, but it is less frequently involved.



Chromosomal Microarray Analysis (CMA):



Chromosomal microarray analysis is a genetic test that can detect small deletions or duplications of genetic material. It is often performed to rule out other genetic conditions that may have similar symptoms to Kabuki syndrome. CMA can identify chromosomal abnormalities that may contribute to the individual's clinical presentation.



Next-Generation Sequencing (NGS):



Next-generation sequencing is a powerful genetic testing method that can analyze multiple genes simultaneously. It is commonly used to identify mutations in the KMT2D and KDM6A genes associated with Kabuki syndrome. NGS can detect small changes in the DNA sequence, including point mutations, insertions, and deletions.



Other Diagnostic Tests:



In addition to genetic testing, other diagnostic tests may be performed to evaluate the individual's overall health and identify any associated complications. These tests may include:




  • Hearing tests to assess hearing loss

  • Echocardiogram to evaluate cardiac abnormalities

  • Bone X-rays to detect skeletal abnormalities

  • Immunological tests to assess immune function

  • Developmental assessments to evaluate cognitive and motor skills



Multidisciplinary Approach:



Diagnosing Kabuki syndrome often requires a multidisciplinary approach involving various healthcare professionals. Geneticists, pediatricians, neurologists, cardiologists, audiologists, and other specialists collaborate to assess the individual's symptoms, perform necessary tests, and provide comprehensive care.



Conclusion:



Diagnosing Kabuki syndrome involves a combination of clinical evaluation, genetic testing, and other diagnostic tests. The identification of characteristic features, along with genetic mutations in the KMT2D or KDM6A genes, helps confirm the diagnosis. It is important to consult with healthcare professionals experienced in genetic disorders to ensure accurate diagnosis and appropriate management of Kabuki syndrome.


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