The Kabuki syndrome life expectancy is a normal life expectancy.
You can live a normal lifespan with Kabuki syndrome as people with Kabuki syndrome have a normal lifespan, as Kabuki syndrome does not inherently shorten your lifespan.
Although the lifespan of someone with Kabuki syndrome also depends on the management of any specific associated medical issues, like congenital heart defects or kidney problems.
Kabuki syndrome as it's known today was originally named Kabuki makeup syndrome in 1981 due to the facial features of people affected with kabuki syndrome, which resembled the stage makeup that was used in traditional Japanese Kabuki theater.
However the word makeup in Kabuki makeup syndrome was dropped officially to simply the name to just Kabuki Syndrome.
Another name for Kabuki makeup syndrome and Kabuki syndrome is Niikawa Kuroki syndrome.
Kabuki syndrome is a rare genetic disorder, which affects multiple body systems.
Kabuki syndrome is also characterized by 5 primary features, which include distinct facial features like elongated eyes and arched eyebrows, mild to moderate intellectual disability, skeletal abnormalities, persistence of fetal fingertip pads and postnatal growth deficiency.
There's no cure for Kabuki syndrome, but symptom specific treatments are available to improve the persons quality of life with Kabuki Syndrome.
The facial features in Kabuki syndrome include lower eyelids that turn out slightly, elongated eyelid openings, arched or broad eyebrows and prominent ears.
These facial features in Kabuki syndrome were originally noted for resembling the stage makeup of traditional Japanese Kabuki theater.
Other characteristics and symptoms of Kabuki syndrome are mild to moderate learning delays, intellectual disabilities, and socio-emotional delays.
Joint hyperflexibility, poor muscle tone or hypotonia, and irregularly shaped vertebrae or short fifth fingers and potential for congenital heart defects, kidney/gut abnormalities, and endocrine issues like hypoglycemia or low blood sugar.
Other signs of Kabuki syndrome are increased susceptibility to infections, hearing loss and misaligned eyes.
The Kabuki syndrome is mainly caused by a genetic mutation or variation in one of two genes which include KMT2D or KDM6A.
These genes play a critical and essential role in how the DNA is packed and regulated also known as epigenetics, which also affects widespread growth and development.
And in most cases, Kabuki syndrome occurs sporadically as a new mutation in the person, rather than being inherited from the parents.