Kabuki syndrome is a genetic disorder that causes physical and developmental disabilities. Most cases of Kabuki syndrome are caused by a mutation in the MLL2 gene, which is involved in producing a protein found in many of the body's organs and tissues. However, about 30 percent of cases of Kabuki syndrome have no known cause. Kabuki syndrome was discovered by two Japanese doctors in 1981.
The name of the disorder comes from a Japanese type of theater featuring actors with distinctive facial features similar to those caused by Kabuki syndrome. These include arched eyebrows, long eyelashes, long eyelids with lower lids that are turned out at the corners, a flattened nose, and large earlobes. People who suffer from Kabuki syndrome are often short, with poor muscle tone, scoliosis, cleft palate, a small head, eyes that look in different directions, and/or problems with the hips or knees. In addition to the physical characteristics, Kabuki syndrome can cause a variety of intellectual and developmental delays, as well as other health problems. These can include heart abnormalities, hearing problems, and early puberty.
Approximately 1 in 32,000 newborns are born with Kabuki syndrome, and these children usually have no family history of the disorder. Because Kabuki syndrome is so complex, with many varied symptoms, children are usually not diagnosed until after the first year of life. Infants with the syndrome are often very ill and have poor sleep patterns. Feeding difficulties and speech and language delays are common. Though the early years are difficult, many adults with Kabuki syndrome ultimately are able to live independently.