Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese theater called Kabuki.
Kabuki syndrome is caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6Agene.
When Kabuki syndrome is caused by mutations in the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
When Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern.