Kabuki syndrome synonyms

Kabuki syndrome, also known as Kabuki make-up syndrome or Niikawa-Kuroki syndrome, is a rare genetic disorder characterized by multiple physical and developmental abnormalities. It was first described in Japan in 1981 and has since been identified in various ethnic groups worldwide. The syndrome is named after the traditional Japanese theater form, Kabuki, due to the facial resemblance of affected individuals to the dramatic make-up worn by Kabuki actors.

Synonyms for Kabuki syndrome include Kabuki make-up syndrome and Niikawa-Kuroki syndrome. These terms are often used interchangeably to refer to the same condition. The name "Kabuki make-up syndrome" emphasizes the facial features resembling Kabuki actors' make-up, while "Niikawa-Kuroki syndrome" honors the two Japanese physicians who first described the disorder.

Individuals with Kabuki syndrome typically exhibit distinct facial characteristics, such as arched eyebrows, long eyelashes, widely spaced eyes, and a flattened nasal tip. They may also have skeletal abnormalities, intellectual disabilities, short stature, and various organ malformations. The severity and combination of symptoms can vary widely among affected individuals, making each case unique.

Kabuki syndrome is caused by mutations in specific genes involved in the development and function of various body systems. The most commonly affected gene is KMT2D, accounting for approximately 70-80% of cases. Other genes, such as KDM6A, have also been implicated in a smaller percentage of individuals with Kabuki syndrome.

Although there is currently no cure for Kabuki syndrome, management focuses on addressing individual symptoms and providing supportive care. This may involve early intervention programs, educational support, physical therapy, and regular monitoring of organ function. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and potential risks in future pregnancies.