Kabuki syndrome, or “Kabuki makeup” as it was named by some specialists, is a multiple congenital anomaly characterized by typical facial features. The term makeup was adopted due to the resemblance to the makeup worn by actors in Kabuki theater, a traditional art form in Japan. The term makeup was dropped as it was considered an embarrassing way to refer to the disease. As it is a rare disease, little is heard about it, however, cases have been increasing each day. In addition to facial features, skeletal anomalies, growth delay, and intellectual disability are also present.

Kabuki syndrome was initially diagnosed in Japan, but it has been seen in all ethnicities around the world. Little is still known about the syndrome, but it is believed to be caused by mutations in two genes involved in chromatin regulation. Chromatin is responsible for maintaining DNA and activating genes through epigenetic changes.

Main Signs of Kabuki Syndrome

The syndrome is mainly characterized by:

  • Cleft palate and cleft lip
  • Arched eyebrows
  • Long eyelashes
  • Elongated eyelids
  • Low nasal tip
  • Hearing loss
  • Brachydactyly (short fifth finger)

Other symptoms such as prominent ears, dislocation of the hip and patella, scoliosis, mental retardation, and spaced, completely irregular teeth are also common. Dental problems, together with cleft palate and cleft lip, almost always cause great difficulty in eating and speaking, requiring special care.

They also experience muscle contractions that inevitably affect the child’s motor coordination and balance. In 30% of children born with Kabuki syndrome, heart problems are observed, which is why a cardiological assessment is essential, especially in the first year of life.

Specific Symptoms

In some rarer cases, children may have seizures and certain feeding problems. Strabismus or nystagmus can also be observed, but can be corrected through early surgical intervention. The most alarming symptom is growth delay – many babies and children gain weight slowly and are always below the appropriate percentile for their age.

Some cases may be treated with growth hormones to accelerate development. However, there is a significant risk of obesity during adolescence, despite no obvious or proven endocrine alterations being detected by tests.

Due to mental retardation that can range from mild to moderate, it is very difficult for a child to keep up at regular schools. They need specialized support and assistance in the development of speech and motor skills. In many cases, upon reaching adolescence, thanks to training received since childhood, they are able to learn to read and write.

Hearing

As for hearing loss, on average, 50% of children have this deficiency, due to malformation of the middle ear and recurrent infections. Another 25% have sensorineural hearing loss, which, due to a nerve conduction failure, can be corrected through the use of hearing aids.

In 20% of children, malformations of the small bones of the middle ear, which are responsible for conducting sound, have been observed, but these can also be corrected through surgery or hearing aids.

How Is Kabuki Syndrome Diagnosed?

There is still great difficulty in diagnosing the disease, since there is no specific test to indicate the syndrome. Therefore, diagnosis is usually made through the combination of 5 or more determinant and fundamental symptoms, such as:

  • Craniofacial malformation
  • Growth and developmental delay
  • Skeletal anomalies
  • Intellectual disability

and through molecular analysis performed by ordered tests, which provides confirmation. It is also possible to diagnose during prenatal care when there is already another child or close family member with Kabuki syndrome and the mutation is already known.

Treatment of Kabuki Syndrome

Treatment is based on each symptom and its consequences. For instance, for babies who have difficulty feeding, a gastrostomy tube may be inserted to facilitate feeding.

For children with hearing loss, annual evaluations are needed, including vision tests. Dental visits are also essential for tracking dental development and its progression.

IMPORTANT: Kabuki syndrome was named because the disease’s typical features resemble the makeup worn in Kabuki theater in Japan—strikingly marked features with arched eyes and a slightly flattened nose.

Since children with Kabuki syndrome often suffer from recurrent infections, monitoring with an immunologist may also be required, in addition to the cardiologist who will follow up on cardiac complications, if present.

For speech problems, support from a speech therapist is essential to monitor expected development. Physiotherapists work on improving mobility and muscle development.

See also: What is Edwards Syndrome?

Photo: Dumplestilskin, Tommaso Meli