The way that you test for Kabuki syndrome is through a combination of genetic testing as well as through clinical physical evaluation.
Although there's no single blood test for testing for Kabuki syndrome, but instead, doctors look for specific genetic markers or distinct physical characteristics to confirm the diagnosis of kabuki syndrome.
Genetic testing is the most definitive method to confirm the Kabuki syndrome diagnosis, which involves single gene testing and multigene panels.
For single gene testing, doctors often start by sequencing the KMT2D gene, as around 75 percent of genetic cases of kabuki syndrome are caused by mutations here and if not mutation is found, the KDM6A gene is tested.
And many doctors use broader gene panels that screen for both of these genes at the same time.
You can sometimes have kabuki syndrome and not know it, especially if the symptoms are mild.
Many cases of Kabuki syndrome go undiagnosed because it's features like mild learning delays, slight bone differences and arched eyebrows vary widely from person to person.
Some people, most particularly females with mutations in the KDM6A gene, can have the genetic variant but also experience absolutely no symptoms, or the symptoms are so mild that they are also easily overlooked.
And an infant with Kabuki syndrome may even appear completely healthy at birth as the physical features, developmental delays and skeletal abnormalities can take years to become obvious.
Kabuki syndrome is a rare genetic disorder, which affects multiple body systems, often causing distinctive facial features as well as growth delays, skeletal abnormalities and mild to moderate intellectual disability.
Kabuki syndrome get's it's name because of the facial characteristics of many affected people that resemble the stage makeup that is used in traditional Japanese Kabuki theater.
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.