Kabuki syndrome is a rare genetic disorder (disease) that is found equally across genders, ethnicities, and geographies. Kabuki syndrome is caused by mutations in two known genes, and possibly others yet to be identified. The gene mutation usually occurs randomly, but Kabuki syndrome can be passed on by a parent to their child.
Symptoms associated with Kabuki syndrome vary between individuals and can include intellectual disability, feeding difficulties, immune deficiencies, cardiac and kidney abnormalities, growth deficiencies and diminished muscle tone, to name a few. Each person with Kabuki syndrome is unique.
