What is Kabuki syndrome

Kabuki syndrome is a rare genetic disorder that affects multiple parts of the body. It is characterized by distinct facial features, developmental delays, and various physical and intellectual disabilities. The syndrome was named after the traditional Japanese theater style due to the resemblance of affected individuals' facial features to the makeup worn by Kabuki actors.

Facial features: Individuals with Kabuki syndrome often have arched eyebrows, long eyelashes, widely spaced eyes, and a flattened nose tip. Their ears may be low-set and abnormally shaped.

Developmental delays: Children with Kabuki syndrome may experience delays in reaching developmental milestones such as sitting, crawling, and walking. They may also have speech and language delays.

Physical and intellectual disabilities: Individuals with Kabuki syndrome may have skeletal abnormalities, heart defects, and poor muscle tone. They may also have intellectual disabilities, learning difficulties, and behavioral challenges.

Kabuki syndrome is caused by mutations in certain genes, although the exact genetic mechanisms are not fully understood. Treatment for Kabuki syndrome focuses on managing the individual's specific symptoms and may involve a multidisciplinary approach with various healthcare professionals.