Kabuki syndrome

Kabuki syndrome is rare and can occur in both males and females. Two doctors in Japan first described this syndrome in 1981.

There are many symptoms associated with Kabuki Syndrome, some common ones are large ears, inner ear deformity and repeated ear infections. From the ear problems, the child may end up having hearing loss. Dental problems are also common symptoms, such as a cleft lip, small teeth, abnormally shaped teeth, missing teeth, small mouth and a small jaw. People with kabuki syndrome can have a slow growth rate and early puberty, along with a rapid weight gain during the puberty time. Saggy eyelids and thick eyelashes are also quite common with this disorder. Many kids have small fingers and continuous finger fetal pads. There may be some webbing of the fingers.

The intellectual disability that kids have with kabuki syndrome varies, and many children may have mental retardation and behavioral difficulties. Some children have normal intelligence, but they usually tend to have some differences, such as speech problems. There are usually delays in speech, and the child may experience strange reactions to certain noises, such as a panicky reaction. People that have kabuki syndrome often experience seizures. There also may sometimes be severe joint dislocations in certain areas of the body. Babies are usually born appearing normal, with normal weights and lengths. Eventually you may notice that there is a failure to thrive. Babies often experience feeding problems. Around half of the children that have this syndrome will have cardiovascular abnormality. Children with this syndrome are not said to have a shortened life.
It is thought that Kabuki Syndrome is caused by a micro-deletion of a chromosome, but for the majority of people with kabuki syndrome chromosome studies seem to be normal. Studies are still being done to find the cause.

There is not a known cure for this condition as of yet, but there are some things that can help. Surgery can be done to help many of the symptoms and problems associated with this disorder. Hearing aids can help with the loss of hearing due to ear problems. There are many types of therapies that can be done to help, such as physical therapy to help muscle development, speech therapy, sensory integration therapy, etc. There are many sites out there that provide support and information on this disorder, and you may find it quite helpful to talk to other families that have children with the same disorder. Always keep in mind that there is research and studies always being done to have better understanding about the treatments, causes, and the condition in general.