Kabuki syndrome is a rare type of congenital disorder which was first identified and described by two Japanese scientists named Kuroki and Niikawa in the year 1981. In this disorder the child is born with distinct facial and other physical anomalies together with mild to moderate mental impairment.
The syndrome is named so because children suffering from this condition have similar facial feature as that of actors working in Japanese traditional theater (Kabuki).In Japan, 1 of 32000 children is estimated to be suffering from this disease.
Treatment of kabuki syndrome is mainly conventional. It consists of physical, occupational therapy to improve the skill of the child. Sometimes cosmetic surgery is needed to correct the facial deformities. The overall prognosis is good.
Causes Of Kabuki Syndrome
Kabuki syndrome is a congenital disorder. The exact cause of this condition was not known.Although specific chromosomal abnormality was not detected earlier, recent research suggests mutation in MML2 gene to be the underlying cause of kabuki syndrome.
MML2 gene in the body is generally responsible for secretion of certain protein that helps in various processes that take place in the body. Due to mutation of MML2 the production of specific protein gets hampered causing interruption is biological and chemical processes in the body. It thus leads to various signs and symptoms of kabuki syndrome.
There may be family history of kabuki syndrome or it may be spontaneous due to gene mutation having no known cause. The disorder is mainly found in Japanese children and diverse ethnic group of European countries. One in 32000 children in Japan is suspected to be suffering from this rare Kabuki makeup syndrome. Males and females are equally affected in this disorder.
Signs And Symptoms Of Kabuki Syndrome
Kabuki syndrome occurs since birth of the child. There are several symptoms noted, both physical and mental in children suffering from this condition. They can be mild or severe. The cardinal feature of kabuki syndrome is abnormal facial features;
- The child’s head is extremely small with large and thick eyebrows and long eyelashes.
- The ear lobes have distinct appearance. They are very prominent and cupped shaped. Some adults suffering from this condition may develop frequent ear infection which may lead to hearing loss in a long run.
- The tip of nose is flat. Some children have cleft palate and deformed teeth.
- Finger are very short, especially the fifth finger. There may be mild webbing between the fingers.
- Weak muscles and abnormal deviation of spine towards one side. Defects in hip and knee joint. Due to skeletal defects the child has stunted growth and appears short stature.
- Vision problems may occur as a severe symptom of kabuki syndrome.
- The patient has mild to moderate mental retardation.
Other common manifestation of kabuki syndrome is congenital defect in heart, frequent hypoglycaemia, and early signs of puberty in girls.
Alternative Therapies For Kabuki Syndrome
Kabuki syndrome is a congenital disease with no definitive cure. However, the condition and its symptoms can be very well managed so that the patient is able to live a better and productive life. Special therapies such as speech therapy, physical therapy, occupational therapy will help the patient to improve his skills both mentally and physically.
This supportive care is necessary in all patients suffering from kabuki syndrome. Physical therapy helps to improve muscle tone and its flexibility.
Corrective surgery may be needed for patients having cleft palate, recurrent ear infection, or any cardiac and abdominal anomalies. Some patients may opt for cosmetic surgery to improve the appearance of their face.