What Is Kabuki Syndrome?

What is Kabuki syndrome and why has it received this strange name? We'll take a closer look.
What Is Kabuki Syndrome?

Last update: 13 December, 2020

Kabuki syndrome, also known as Kabuki mask syndrome or Niikawa Kuroki syndrome, is a very rare genetic disease unknown to most people. For this reason, we’ve prepared this article about the subject.

This rare disease was first described in 1981 by Japanese scientists Norio Niikawa and Yoshikazu Kuroki. They decided on the peculiar name of the syndrome because of the similarity they observed between the facial features of these people and the Kabuki masks, typical of a particular form of traditional Japanese theater.

Would you like to find out more about this disease and its manifestation in childhood? Keep reading!

What Is Kabuki Syndrome?

What is Kabuki syndrome?

Kabuki syndrome is a genetic disease caused by mutations in two genes, KMT2D and KDM6A. Today, experts estimate that it can affect 1 in 32,000 births, and about 400 cases have been detected worldwide. However, experts believe there are many more cases.

This disease is associated with a wide and varied spectrum of congenital problems. However, the symptoms and level of severity of the disease can vary greatly between patients. Although, in general, the following can be highlighted:

  • Heart problems
  • Mild to moderate intellectual deficit
  • Hypotonia
  • Postnatal growth deficiencies and short stature
  • Abnormalities of the spine
  • Hyperlaxity and joint dislocation
  • Anomalies in the shape of the fingers
  • Long eyelids, folded upwards in the external third of the inferior eyelid
  • Bowed eyebrows
  • Wide nasal bridge, with the tip inward
  • Large and malformed ears
  • Cleft and arched palate
  • Large prominent eyeballs
  • Visual and auditory problems
  • Epilepsy and seizures

If we observe several of these symptoms and suspect that it could be Kabuki syndrome, then we should immediately request the assessment of a specialist (pediatrician or clinical geneticist) with experience in this type of disorder. They’ll be able to make a clinical diagnosis and offer treatment.

Treatment of the disease

There’s still no treatment to definitively cure Kabuki syndrome. However, if doctors intervene correctly, and in time, these children can enjoy a better quality of life and find relief for some of their symptoms. In most cases, the treatment usually focuses on therapy:

  • Physical: This will stimulate and develop motor skills, strength, and also dexterity.
  • Language: This will work on language development, improve articulation and, if necessary, teach sign language.
  • Psychological: The aim here is to develop social skills, self-control, and the ability to adapt to different contexts. In addition to this, they’ll treat possible emotional problems.

International Kabuki Syndrome Day

October 23rd is International Kabuki Syndrome Day. Establishing a specific date to remember this rare disease spreads awareness about people who have this disease, along with their families.

The aim of this day is to inform the general population about this syndrome and to offer them some basic knowledge. However, there’s still much to be done to achieve this goal, as there’s still much ignorance about Kabuki syndrome.

Here’s the testimony of a teacher who had a student with Kabuki syndrome:

“When I first got to know about Kabuki syndrome, I was completely unaware of its existence. I hadn’t even heard its name. Faced with such ignorance and lack of training, I began to search for information, and my student’s family helped me a lot in this. I can’t say that this resolved all my questions and concerns though. Even having information about the syndrome, I still didn’t feel very sure about the answers I offered to my student.”

– Testimonial of a teacher about her experience with a student with Kabuki Syndrome –

What Is Kabuki Syndrome?

In addition to this, October 23rd can also be considered a special day to recognize and praise the work carried out by certain non-profit organizations. One such organization is from Spain: the Spanish Association of Relatives and Affected by Kabuki Syndrome (AEFA-KABUKI). Throughout the year, they’re responsible for supporting and helping these patients and their families, in order for them to be able to lead the best possible life.

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