A Brief Glance at Kabuki
Kabuki syndrome is a rare genetic syndrome. Current statistics indicate somewhere between 1 and 10,000 and 1 in 32,000 people have Kabuki syndrome. ‘Genetic’ means the individual is born with a condition and the cause of that condition resides in his or her genetic makeup. Genetic disorders can be passed down from one generation to the next (like Muscular Dystrophy) or could be a spontaneous genetic mutation caused by an error in DNA replication. Genetic disorders like Down syndrome can occur with abnormalities at the chromosomal level, whereas other syndromes, like Kabuki syndrome, reside at the specific gene level.Kabuki syndrome is most likely caused by a mutation, rather than an inherited gene. In 2010, a team of researchers at the University of Washington discovered a mutation of the MLL2 gene is responsible for approximately 70% of individuals with Kabuki syndrome. Many laboratories are now offering blood tests to confirm if an individual carries this gene mutation. Ongoing studies are underway to determine if additional contributing genes can be found. It is important all parents see a geneticist for accurate diagnosis and genetic counselling.
A diagnosis of Kabuki can bring mixed feelings. On the one hand it is comforting to know that your child shares similar characteristics with others and that there will be parents ‘out there’ with whom you can share experiences. On the other hand, there are still many uncertainties and questions.
Kabuki received its name because the Japanese doctors who initially described the syndrome thought the children’s facial features looked similar to the actors of the popular Japanese Kabuki theatre….in particular the beautiful large eyes with thick eyelashes and the striking arched eyebrows.
Kabuki is a syndrome with varied characteristics and associated health issues. Diagnosed individuals, however, will not experience all the health problems described on this site. It is very important to remember that each child will have his/her unique set of abilities and challenges and should be treated as such. We present the information about many of the health issues that have been observed so that caregivers will know what issues may need further investigation and/or vigilance.
Given the rarity of this condition, it is valuable to have access to available information as well as to those who share this experience. We invite you to become a member of the Family Directory (if you are a family member of an individual with Kabuki Syndrome) or the Professional Listing (if you are professional who has considerable experience with Kabuki Syndrome). It is through networking with one another that we are in the best position to aid in the healthy development of individuals with Kabuki.Return to Overview