Kabuki syndrome, also known as Kabuki makeup syndrome or Niikawa-Kuroki syndrome, is a very rare inherited disorder. The cause is as yet unknown; therapy is concerned with alleviating symptoms. To date, there is no abundant information about the symptoms, nor about the course of the disease; the syndrome cannot be prevented.
What is Kabuki syndrome?
Dr. Kuroki and Dr. Niikawa – independently – first described the syndrome in 1980. Kabuki syndrome is a relatively “new” disease; for this reason, there is very little knowledge about the syndrome to date. The name Kabuki make-up syndrome describes the characteristics of the disease. Finally, those affected are reminiscent of the Kabuki actors in Japanese theaters. However, due to the fact that the term “make-up” brought a negative association, physicians mainly use the term Kabuki syndrome. Due to the fact that very few medical professionals are actual professionals in the field of the disease, the syndrome has been diagnosed very rarely. However, it must be assumed that – at most – several hundred people (worldwide) are affected by Kabuki syndrome. How high the number of unreported cases is, cannot be said.
Causes
So far, the cause, for which reasons Kabuki syndrome can break out, is unknown. Medical experts assume a sporadic or spontaneous mutation of the genetic structure. Researchers have so far been able to rule out external circumstances or even certain environmental conditions that trigger the genetic defect. In a few cases, children have been affected whose parents (or one parent) also carried the same mutation and were thus affected by Kabuki syndrome. So far, however, there have been very few affected persons whose parents (or at least one parent) were also affected by Kabuki syndrome. This is also because the course of the disease varies and in many cases the affected persons cannot lead a regular life – in the sense of starting a family. However, it must be concluded from the documented cases that Kabuki syndrome is an autosomal-dominant hereditary disease. Therefore, the risk of inheriting the gene defect is 50/50.
Symptoms, complaints, and signs
The syndrome has a very diverse and broad spectrum. Affected individuals suffer from arched and wide eyebrows, elongated palpebral fissures, and also a flat nasal tip and large, protruding and cup-shaped ears. Many affected individuals have a high palate, cleft lip and palate, and also dental anomalies. However, while children are still normal in size at birth, growth is delayed over time. While at the beginning of research it could be assumed that microcephaly was one of the characteristic symptoms, more and more cases became known which were not affected by this. Anomalies of the skeletal system (brachymesophalangia, brachydactyly V as well as clinodactyly of the fifth fingers, dislocated or hyperextensible joints as well as anomalies of the spine) as well as dermatoglyphic anomalies of the fetal fingertip pads frequently develop. In almost all cases, there is an intellectual deficit of the affected person; sometimes patients also complain of neurological symptoms and sometimes suffer from seizures or muscle hypotonia. The development of the affected person is usually delayed. Autistic features, hearing loss, and hyperactivity have also been documented. In a few cases, the sclerae of affected individuals are bluish, reminiscent of the hereditary disease osteogenesis imperfecta (brittle bone disease), among others. Congenital heart defects, septal defects, or left-sided obstructive lesions are also possible. Any malformations of the urinary tract and kidneys may also occur, although only 25 percent of affected individuals suffer from those symptoms and signs.
Diagnosis and course of the disease
To date, no tests are available so that Kabuki syndrome can be easily and reliably diagnosed. Geneticists must therefore focus mainly on the specific traits. Therefore, the diagnosis cannot be confirmed until the affected child has four of the five main characteristic features: Skeletal anomalies, characteristic facies, mental retardation, dermatoglyphic anomalies or the postnatal short stature.Furthermore, the physician must also closely examine the characteristics of the face. The courses of Kabuki syndrome vary. Up to now, only few documentations are available, so that it is not possible to explain precisely how Kabuki syndrome behaves. Furthermore, there are different manifestations of the syndrome. While some children can lead a halfway normal life, there are such severe forms that affected persons have to live with enormous limitations (problems with walking, standing, (speaking). It is not known whether Kabuki syndrome affects the life expectancy of those affected, but it cannot be ruled out entirely.
Complications
Among the more low-incidence inherited disorders is Kabuki syndrome. Kabuki syndrome manifests itself in various congenital anomalies, especially in the face, as well as on the basis of changes in skeletal structure up to short stature and a partial intelligence disorder. The external abnormalities can already be easily recognized in newborns, such as cleft palate and lip, sunken nasal tip, protruding ears and overlong palpebral fissures to arched eyebrows. With the increase of the years of life more complications concerning the syndrome occur. Due to the strong susceptibility to infections, children with Kabuki syndrome are sickly and repeatedly suffer severely from colds and middle ear infections. The physical development is problematic, as the affected persons tend to scoliosis, hip dysplasia, dental anomalies and hyperextension of the finger joints. Even before adolescence, obesity and massive cardiovascular problems are common. If Kabuki children receive therapy in the form of speech therapy, physiotherapy and occupational therapy as well as psychologically supervised developmental support at an early stage, they can participate in school lessons as far as possible. Through intensive medical care, further deficits can be identified, but only to a limited extent can they be specifically treated. The complexity of the disease and the resulting complications are considerable. Adolescent Kabuki sufferers develop spontaneous seizures and neurological disorders, and in almost one in two the syndrome leads to hearing loss. The life expectancy of affected individuals with Kabuki syndrome is reduced.
When should you see a doctor?
If the newborn has malformations or abnormalities, a doctor should be informed. Kabuki syndrome can be recognized immediately after the child is born by its clear symptoms. Parents who notice a cleft lip and palate, problems with hearing or growth disorders in their child are best to consult the doctor. Hearing loss, hyperactivity and seizures are also clear warning signs that require clarification by a doctor. Close monitoring by the physician is indicated during treatment. Especially during the growth phase, constant adjustment of the therapy is necessary. Parents should inform the physician of any unusual symptoms. In case of cramps or pain, the child should be taken to a hospital. Treatment for Kabuki syndrome is provided by the family physician and various specialists depending on the particular symptoms and complaints. Children should first be presented to a pediatrician. Affected individuals suffering from obesity must also consult a nutritionist. A comprehensive examination by a cardiologist is also needed beforehand.
Treatment and therapy
Due to the fact that no cause is known yet, Kabuki syndrome can only be treated symptomatically. This means that physicians primarily assess the severity of the syndrome and subsequently plan treatment accordingly. If there are any limitations in walking, standing or speaking, physical and logopedic units are mainly recommended. If, on the other hand, malformations of the organs have been diagnosed, the doctors concentrate mainly on healing or treating the impaired organs. Life support and symptom and pain relief are the most important issues for the physicians. Any physical pain that may occur during the course of the disease is treated with medication. Again, predominantly only the symptoms can be treated, but not the causes.
Outlook and prognosis
The most effective self-help for Kabuki syndrome is adequate and regular exercise. This does not mean a daily marathon or endurance sports in which one exerts oneself.It is important to recognize one’s own limits and to have an experienced fitness trainer put together an individual training plan in cooperation with the attending physician. This plan should then be regularly adapted to the patient’s own progress. With daily exercise, the affected person can sometimes regain significantly more control over his or her muscles and counteract the muscle hypotonia that usually occurs, or counteract it if treatment is started early. In addition, exercise stimulates the circulation and promotes blood flow, which supports the therapeutic effect. To reduce the risk of injury during seizures, care must be taken when furnishing the living environment to ensure that it is safe for falls. Laying carpeting instead of tile flooring can already reduce possible secondary injuries from a fall due to the cushioned impact. Last but not least, nutrition also plays a decisive role on the way to a better quality of life. A balanced magnesium level reduces the intensity of cramps and this can be achieved not only by means of dietary supplements, but ideally by a consistent change in diet. Help in this regard is provided by trained nutritionists who take into account diseases and allergies and compile the best individual diet.
Prevention
Since no cause is known so far, Kabuki syndrome cannot be prevented. However, environmental influences, external causes, or favoring factors can be ruled out entirely.
Follow-up
In Kabuki syndrome, the measures of an aftercare are very limited in most cases or are not available to the affected person at all. At the same time, follow-up care is not always necessary for this disease, as the disease cannot be completely cured either. Since it is a hereditary disease, genetic testing and counseling should always be done first if the patient wishes to have children, so that Kabuki syndrome does not reoccur in the descendants. Early detection and treatment of the disease usually always has a positive effect on the further course of the disease. In most cases, the person affected by this disease is dependent on intensive measures of physiotherapy and also physiotherapy. Some exercises from such therapies can also be repeated at home to further alleviate the symptoms. Also the intensive care and help by friends and by the own family are very important with the Kabuki syndrome and can prevent and alleviate psychological upsets or depressions. Possibly, the life expectancy of the affected person is reduced due to this disease, so often the parents or relatives of the patient should also undergo psychological treatment.
This is what you can do yourself
Kabuki syndrome, as a congenital hereditary disease, cannot be treated. The accompanying mental disability is also irreversible. Therefore, effective daily living help must target the other symptoms. Mainly muscle hypotonia and various malformations occur as accompanying symptoms. Especially muscle hypotonia can be counteracted in everyday life. Daily muscle exercises can help sufferers to gain at least partial control over their muscles. It is important that the limits of personal abilities are respected. There is therefore no universal training program. Another possibility of everyday help is aimed at the accompanying seizures. On the one hand, a fall-proof design of the home is useful to counteract possible consequential injuries of a fall. On the other hand, the diet can be composed with regard to a healthy magnesium balance in order to reduce the intensity of the cramps. Dietary supplements are also a conceivable option for this purpose. Overall, however, regular exercise is the most important component of everyday self-help. As described, it counteracts muscular hypotension, but also helps with the symptoms that affect blood flow. Exercise cranks up circulation and thus regulates blood flow, ensuring adequate supply.