Kabuki Syndrome

What is Kabuki syndrome?

Kabuki syndrome is a rare multisystem disorder that is characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. However, a wide range of additional symptoms that affect multiple different organ systems can also potentially occur. The disorder was originally called Kabuki-makeup syndrome because the facial features of many affected children resembled the makeup used by actors in kabuki, which is a form of Japanese theater. Since then, the term “makeup” has been dropped.

What causes Kabuki syndrome?

So far, it is known that a mutation in one of two genes leads to Kabuki syndrome: most commonly, the KMT2D gene, but also the KDM6A gene.  Most cases of Kabuki syndrome occur because of a spontaneous mutation in one of these genes, but familial occurrence of the disorder has been reported. This inheritance can occur in an autosomal dominant pattern.

What are the symptoms of Kabuki syndrome?

The specific symptoms that are associated with Kabuki syndrome vary greatly from one affected individual to another. Some features of the condition are present and birth, and others become apparent as the child ages. Particularly, the distinctive facial appearance of affected individuals, of which the disease was named, include the following features that develop slowly over several years:

• Abnormally long openings between the eyelids
• Lower eyelids that are turned outward
• Prominent eyelashes
• Arched eyebrows
• Broad nose with a flattened or depressed tip
• Large, misshaped ears

In addition to these facial features, other symptoms of Kabuki syndrome include the following:

• Growth deficiency and short stature
• Mild to moderate intellectual disability
• Seizures and diminished muscle tone
• Feeding difficulties, such as gastroesphogeal reflux, poor sucking ability, and difficulty absorbing or digesting nutrients from food
• A variety of dental and/or skeletal malformations

There are many other signs and symptoms present in individuals with Kabuki syndrome, characteristic of other multisystem disorders, but the ones listed above are the most common and inclusive.

How is Kabuki syndrome diagnosed?

A diagnosis of Kabuki syndrome can be diagnosed based on a thorough clinical evaluation, with a detailed patient history and an identification of the characteristic findings of the disease. Clinical genetic testing is also available to confirm a diagnosis, but about 30% of individuals with Kabuki syndrome will not show a mutation in the KMT2D gene nor the KDM6A gene. In these cases, physicians will look for four of the five following characteristic findings of the condition to confirm a diagnosis:

1. Distinctive facial features
2. Skeletal abnormalities
3. Intellectual disability
4. Dermatoglyphic abnormalities, such as persistent fetal finger pads
5. Postnatal short stature

What are the available treatments for Kabuki syndrome?

Because Kabuki syndrome is a multisystem disorder, treatment of the condition is directed toward the specific symptoms that are apparent in each individual and are each treated by their appropriate specialist. In general, special education, physical and occupational therapy, speech therapy, and sensory integration therapy may be beneficial.

Where can I find more information on Kabuki syndrome?

• National Organization for Rare Disorders (NORD)
• Kabuki Syndrome Network
• U.S. National Library of Medicine