Kabuki Syndrome was formerly known as the Niikawa Kuroki Syndrome or Kabuki makeup syndrome. It is a rare kind of congenital abnormality which is associated with mental disorder and physical deformity. This syndrome was discovered by two Japanese scientists named Kuroki and Niikawa. The name of the Kabuki syndrome is derived from a traditional Japanese theatrical performance.
It has been observed that one out of 32000 babies in Japan suffered from this rare disease. But this syndrome can now be traced among diverse ethnic and racial groups. This syndrome can be found equally in females and males.
The cause of the disease is unknown. But genetic disorder or genetic abnormality is thought to be the reason that can cause this rare Kabuki Syndrome. Some scientists believe that deletion syndromes and Kabuki Syndrome have common causes but this has not been proved. Chromosomal abnormality can be the cause of this disease.
The symptoms of Kabuki syndrome are diverse. A child who is suffering from Kabuki syndrome may have ill-formed ears which are generally larger than the normal ear. Sometimes, a patient may have to face frequent incidents of ear infections that can lead to hear loss in some children. This is one of the prominent symptoms of this disease. Saggy eyelid, thick eyelashes are some of the common symptoms of Kabuki syndrome.
Small fingers and Weak muscle tone are some of the physical abnormalities that a patient has to face. Sometimes, a person may have to experience some severe problems pertaining to joint dislocation in some areas of his/her body for example knee, shoulders and hips.
Congenital deformity can also lead to cleft lip in a child who is suffering from Kabuki syndrome. Dental problems for example irregular shape and small teeth are also prominent symptoms of Kabuki syndrome.
A child who is suffering from Kabuki Syndrome is usually retarded. This is one of the conspicuous symptoms of this Kabuki syndrome. Trivial noise can startle them and they always are in a state of panic. Cardiac disorder is another important feature of this syndrome that can jeopardize the life of a patient.
Slow growth rate is also a common sign of this syndrome. This is the reason why a large section of patients are shorter then the normal average height. Neurological disorder and an infection in the urinary track are two most prominent symptoms of this syndrome.
This Kabuki syndrome is incurable but there are some therapies available that can effectively reduce the severeness of the symptoms of this disease. By redressing the symptoms of this disease, a patient can lead a better life. Those who are suffering from heart defeats, can under go surgery to recuperate from this lethal symptom of kabuki disease. Generally, surgery can be done when a heart achieves maturity.
Those, who are facing some difficulties while swallowing a food, can under go a surgical operation in which a tube is inserted in the abdomen so that a patient can gulp food without facing any hindrance. As this syndrome is associated with some infections, one must take proper medication so that his ears and lungs are not infected.
As hear loss is one of the prominent symptoms of this disease, a patient can use a hearing-aid device if it is a mild problem. But if a patient is suffering from severe kind of hearing loss, he must consult a doctor.
Physical therapy can help a patient to bring down the severity of the various symptoms of Kabuki syndrome. Those who are intellectually lagging behind may under go some special treatments. Sensory integration therapy can assist a patient immensely and help him or her eradicate some sensory problems associated with this ailment.
As proper treatment is still unavailable, adequate care has to be taken so that a patient does not face any kind of severe complexity in future. If it has been confirmed that a child is being affected by this disease, one must consult with an experienced practitioner so that the symptoms of this syndrome do not aggravate.