Kabuki make up syndrome

Kabuki Syndrome

Kabuki Syndrome, also known as Kabuki Make-Up Syndrome, is a rare genetic disorder characterized by distinctive facial features, growth delays, intellectual disability, and skeletal abnormalities. The condition was first described in 1981 by Japanese scientists Norio Niikawa and Yoshikazu Kuroki, and it is named for the facial resemblance to the make-up used in Kabuki, a traditional Japanese theater.

Signs and Symptoms

Individuals with Kabuki Syndrome often present with a combination of the following features:

• Distinctive Facial Features: These include long palpebral fissures, arched eyebrows, a depressed nasal tip, and large, prominent earlobes.
• Skeletal Abnormalities: These may include short stature, scoliosis, and brachydactyly (short fingers and toes).
• Intellectual Disability: Most individuals have mild to moderate intellectual disability, although some may have normal intelligence.
• Growth Delays: Many children with Kabuki Syndrome experience postnatal growth deficiency.
• Other Features: These can include heart defects, immune system abnormalities, and feeding difficulties.

Genetics

Kabuki Syndrome is primarily caused by mutations in the KMT2D gene, which is responsible for encoding a protein involved in chromatin modification. In some cases, mutations in the KDM6A gene have also been implicated. The condition is usually inherited in an autosomal dominant pattern, although many cases result from de novo mutations.

Diagnosis

Diagnosis of Kabuki Syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the KMT2D or KDM6A genes.

Management

There is no cure for Kabuki Syndrome, and treatment focuses on managing symptoms and improving quality of life. This may involve:

• Early Intervention: Speech, occupational, and physical therapy can help address developmental delays.
• Medical Management: Regular monitoring and treatment of heart defects, immune deficiencies, and other medical issues.
• Educational Support: Special education services tailored to the individual's needs.

Prognosis

The prognosis for individuals with Kabuki Syndrome varies depending on the severity of symptoms and associated health issues. With appropriate medical care and support, many individuals can lead fulfilling lives.

Research

Ongoing research aims to better understand the genetic mechanisms underlying Kabuki Syndrome and to develop targeted therapies. Advances in genetic testing and personalized medicine hold promise for improving outcomes for affected individuals.

See Also

• Rare Diseases
• Genetic Disorders
• Developmental Disabilities
• Niikawa, N., et al. (1981). "Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency." *Journal of Pediatrics*.
• Adam, M. P., et al. (2019). "Kabuki syndrome: A review of the clinical features, diagnosis, and management." *American Journal of Medical Genetics*.

NIH genetic and rare disease info

• NIH info on Kabuki make up syndrome

Kabuki make up syndrome is a rare disease.