Kabuki Syndrome

What is Kabuki Syndrome

Kabuki syndrome is named after a Japanese traditional theatrical form because the visual symptoms are similar to the actors' make-up.

In Japan, it has been estimated that about one in 32,000 babies is born with Kabuki syndrome (which could mean about 50 cases a year in the UK). Although originally reported in Japan, cases have now been described around the world.

What are the Symptoms of Kabuki Syndrome

People with the syndrome have an unusual facial appearance, characterised by long palpebral fissures (openings for the eyes) with eversion, or turning out, of the outer third of the lower eyelids, and arched eyebrows.

Affected children also have a broad and depressed nasal tip, large prominent earlobes, abnormalities of the inner ear and a cleft or high-arched palate.

Children with Kabuki syndrome may be small at birth and remain small for their age. They may develop scoliosis (curvature of the spine), have a short fifth finger, abnormalities of the vertebrae, hands and hip joints, and suffer from recurrent otitis media (glue ear) in infancy. Some children have congenital heart defects.

What are the Causes of Kabuki Syndrome

The cause is unknown - a genetic abnormality is suspected but has not yet been identified. There has been speculation that the condition might have a common cause with the 22q11.2 deletion syndromes (DiGeorge syndrome and velocardiofacial syndrome) but there is no evidence to prove this.

It's likely that if a gene is involved it's a rare and random mutation that occurs sporadically. There have been a few cases described of an affected parent and child in the same family.

Traditional Medical Treatments for Kabuki Syndrome

There's no cure but medical procedures and therapies can often help symptoms, and support at school and at home can help the children reach their full potential. No prenatal test is currently available.