Summary about Disease
Kabuki syndrome is a rare genetic disorder characterized by multiple congenital anomalies, intellectual disability, and distinctive facial features. These features typically include arched eyebrows, long palpebral fissures (eye openings) with eversion (outward turning) of the lateral portion of the lower eyelids, a broad and depressed nasal tip, and large or prominent earlobes. The syndrome affects multiple systems of the body and can present with varying degrees of severity.
Symptoms
Symptoms of Kabuki syndrome can vary widely but often include:
Distinctive Facial Features: Arched eyebrows, long palpebral fissures with eversion of the lower eyelids, broad/depressed nasal tip, large/prominent ears.
Skeletal Abnormalities: Short stature, scoliosis, hip dysplasia, brachydactyly (short fingers/toes), clinodactyly (curved fingers, often the 5th digit).
Intellectual Disability: Mild to moderate intellectual disability, developmental delays.
Cardiac Defects: Congenital heart defects (e.g., atrial septal defect, ventricular septal defect).
Feeding Difficulties: Poor appetite, failure to thrive, gastroesophageal reflux.
Hearing Loss: Sensorineural or conductive hearing loss.
Immune Deficiency: Increased susceptibility to infections.
Dental Abnormalities: Missing teeth, small teeth, enamel defects.
Endocrine Issues: Premature thelarche, growth hormone deficiency.
Causes
Kabuki syndrome is typically caused by mutations in one of two genes:
KMT2D (lysine methyltransferase 2D): Accounts for the majority of cases.
KDM6A (lysine demethylase 6A): Accounts for a smaller percentage of cases. These genes are involved in chromatin modification, which plays a crucial role in regulating gene expression during development. The mutations can occur spontaneously (de novo) or be inherited from an affected parent.
Medicine Used
There is no specific medication to cure Kabuki syndrome. Treatment focuses on managing individual symptoms and associated health problems. Medical interventions may include:
Cardiac Medications/Surgery: For congenital heart defects.
Growth Hormone Therapy: For growth hormone deficiency.
Antibiotics: For frequent infections.
Hearing Aids/Surgery: For hearing loss.
Feeding Therapy/Nutritional Support: For feeding difficulties.
Orthopedic Interventions: For skeletal abnormalities (e.g., bracing for scoliosis, surgery for hip dysplasia).
Speech Therapy, Occupational Therapy, Physical Therapy: To address developmental delays.
Is Communicable
No, Kabuki syndrome is not communicable. It is a genetic disorder and cannot be transmitted from person to person.
Precautions
Since Kabuki Syndrome is a genetic condition, there are no precautions for preventing its occurrence in individuals already affected. However, for future family planning, genetic counseling and testing are crucial to assess the risk of recurrence in subsequent pregnancies. Specific precautions for individuals with Kabuki syndrome relate to managing their individual health issues and preventing complications. This might include:
Infection Control: Frequent hand washing and avoiding exposure to sick individuals due to potential immune deficiency.
Cardiac Monitoring: Regular checkups with a cardiologist if congenital heart defects are present.
Hearing Protection: Avoiding loud noises and prompt treatment of ear infections.
Dental Hygiene: Regular dental visits and good oral hygiene practices.
Nutritional Management: Ensuring adequate nutrition, possibly with the help of a feeding therapist.
How long does an outbreak last?
Kabuki syndrome is not an outbreak or infectious disease. It is a genetic condition that is present from birth, so this question is not applicable. The symptoms and health issues associated with Kabuki syndrome are chronic and require ongoing management.
How is it diagnosed?
Diagnosis of Kabuki syndrome is typically based on a combination of clinical findings and genetic testing.
Clinical Evaluation: A doctor will assess the individual for the characteristic facial features and other associated symptoms.
Genetic Testing: Molecular genetic testing is used to identify mutations in the KMT2D or KDM6A genes. This is the definitive way to confirm the diagnosis.
Other Evaluations: Cardiac evaluation (echocardiogram), hearing test (audiometry), skeletal X-rays, and developmental assessments may be performed to assess the extent of the syndrome's impact.
Timeline of Symptoms
While the specific timeline can vary, here's a general idea of when symptoms may appear:
Prenatal/Newborn: Sometimes, specific ultrasound findings during pregnancy (e.g., heart defects) can raise suspicion. After birth, distinctive facial features may be noticeable.
Infancy: Feeding difficulties, failure to thrive, hypotonia (low muscle tone), and developmental delays often become apparent.
Early Childhood: Skeletal abnormalities, recurrent infections, hearing loss, and intellectual disability may be diagnosed.
Later Childhood/Adolescence: Scoliosis, dental problems, and endocrine issues can develop. Developmental progress continues, but often at a slower pace.
Important Considerations
Variability: The severity of Kabuki syndrome varies significantly among individuals.
Multidisciplinary Care: Affected individuals require a multidisciplinary approach to care, involving various specialists such as geneticists, pediatricians, cardiologists, audiologists, orthopedic surgeons, and therapists.
Early Intervention: Early intervention programs (e.g., speech therapy, occupational therapy, physical therapy) are crucial for maximizing developmental potential.
Genetic Counseling: Genetic counseling is important for families to understand the inheritance pattern and recurrence risk.
Ongoing Monitoring: Regular monitoring for potential complications, such as cardiac problems, hearing loss, and orthopedic issues, is necessary.
Support Groups: Support groups can provide valuable resources and emotional support for families affected by Kabuki syndrome.