What does Kabuki syndrome type 1 mean?

Generally, Kabuki syndrome type 1 is a rare genetic disorder. If related symptoms appear, timely medical consultation is recommended. Detailed analysis is as follows:

Kabuki syndrome is a congenital disease affecting multiple systems. It is named for its distinctive facial features resembling the makeup of Japanese Kabuki actors. Type 1 is categorized based on causative genes and other factors. Kabuki syndrome type 1 is mainly caused by pathogenic variants in the KMT2D gene located on the X chromosome.

Patients often exhibit characteristic facial features such as arched eyebrows, long eyelashes, downward and outward slanting palpebral fissures, and eversion of the lateral one-third of the lower eyelids. The combination of these facial features presents a unique appearance resembling Kabuki makeup. Meanwhile, most patients experience varying degrees of growth and developmental delays, potentially below normal ranges in weight and length at birth. Most patients require long-term medical support and care to improve their quality of life.

It is recommended that patients with Kabuki syndrome type 1 receive timely diagnosis and treatment to alleviate symptoms, improve quality of life, and reduce the occurrence of complications.