Genetic Disorder Known as Kabuki Syndrome Explained
Kabuki syndrome is a rare genetic disorder that affects approximately 1 in 32,000 births worldwide. Caused primarily by mutations in the *KMT2D* or *KDM6A* genes, this condition presents with a variety of health issues affecting multiple body systems.
This article provides an overview of the common health issues associated with Kabuki syndrome and the typical management strategies.
**Health Issues and Symptoms**
Individuals with Kabuki syndrome may experience developmental delays and cognitive impairment, characteristic facial features, skeletal anomalies, dental problems, liver/biliary issues, behavioural challenges, and a range of other potential health effects such as cardiovascular conditions, hearing loss, kidney abnormalities, missing teeth, immune system issues, undescended testicles, recurrent ear infections, epilepsy, hypotonia, precocious puberty, weight gain during puberty, sleep difficulties, behavioural issues, anxiety disorders, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder.
**Management Strategies**
Given the varied and multisystem involvement, care for individuals with Kabuki syndrome is personalised and supportive, focusing on improving quality of life and addressing specific symptoms as they arise. The management typically involves multidisciplinary clinical care, early intervention programs, dental care, monitoring and management of liver function, support for behavioural and learning difficulties, and surgical interventions when necessary.
Multidisciplinary clinical care may include developmental pediatrics, neurology, dentistry, and hepatology, tailored to the individual's needs. Early intervention programs are crucial for supporting speech, motor skills, and cognitive development. Regular dental evaluations and treatments are essential to manage weakened enamel and prevent tooth decay. Specialist input and potentially surgical intervention may be required for managing liver abnormalities, particularly if biliary atresia or other liver conditions are present.
Support for behavioural and learning difficulties can be provided through therapies and educational accommodations. Surgical interventions may be necessary to correct heart defects, address hearing loss, or reconstruct abnormal physical features like prominent low-set ears, strabismus (misaligned eyes), and undescended testicles. Regular eye examinations and appropriate ophthalmological interventions are important to address any eye and vision-related issues associated with Kabuki syndrome.
**Inheritance and Diagnosis**
In certain instances, Kabuki syndrome can be inherited within families, following an autosomal dominant inheritance pattern. The diagnosis of Kabuki syndrome can be achieved through genetic testing and a physical examination by a paediatrician. If the initial genetic test does not indicate mutations in the *KMT2D* or *KDM6A* genes, further testing may be conducted by a healthcare professional to explore additional possibilities.
**Treatment and Outlook**
At present, there is no known cure for Kabuki syndrome. The primary objective of treatment is to alleviate symptoms and minimise the risk of complications. Various medications may be prescribed to manage specific symptoms, including antiepileptics to control seizures and growth hormones to address growth issues. Different therapeutic approaches, such as physical therapy, occupational therapy, and speech therapy, may also be beneficial in managing Kabuki syndrome.
Kabuki syndrome received its name due to the resemblance of affected individuals' features to the distinctive makeup used in traditional Japanese theatre. Despite the challenges, many individuals with Kabuki syndrome lead fulfilling lives with appropriate care and support. Genetic counseling is an important aspect for affected families.
This summary is based on recent genetic and clinical reports linking Kabuki syndrome to these common issues and their typical management strategies.
[1] Genetics in Medicine. (2018). Kabuki syndrome. [2] American Journal of Medical Genetics Part A. (2016). Kabuki syndrome: Clinical and molecular insights. [3] Journal of Dental Research. (2018). Dental manifestations in Kabuki syndrome: A review.
- A focus on fitness-and-exercise, mental-health, sleep, and skin-care routines can contribute to the overall health-and-wellness of individuals with Kabuki syndrome, in addition to their medical management.
- Therapies-and-treatments such as physical therapy, occupational therapy, and speech therapy can help manage numerous challenges faced by people with Kabuki syndrome, as part of a comprehensive approach to care.
- Health professionals may prescribe medication for symptoms like seizures, growth issues, and mental health concerns in individuals with Kabuki syndrome to improve their quality of life.
- As Kabuki syndrome can potentially impact a broad spectrum of health aspects, incorporating a variety of scientific-based health-and-wellness strategies may offer additional support for those living with this condition.
- In some cases, individuals with Kabuki syndrome may require the guidance of healthcare professionals regarding the use of medications and therapies to manage their unique symptoms and maintain their health as they progress through different stages of life.
