Kabuki Syndrome, also known as Kabuki Make -up Syndrome or Niikawa-Kuroki Syndrome, is a very rare inherited disorder. The cause is not yet known; therapy is concerned with relieving symptoms. So far there is neither rich information about the symptoms nor about the course of the disease; the syndrome cannot be prevented.
What is Kabuki Syndrome?
So far, the cause for which reasons the Kabuki syndrome can break out is unknown. Doctors assume a sporadic or spontaneous mutation of the genetic structure. See AbbreviationFinder for abbreviations related to Kabuki Syndrome.
dr Kuroki and Dr. Niikawa first described the syndrome independently in 1980. Kabuki syndrome is a relatively “new” disease; for this reason there is so far only very little knowledge about the syndrome. The term Kabuki Make-Up Syndrome describes the characteristics of the disease. Ultimately, those affected remember the Kabuki performers in Japanese theaters.
However, due to the fact that the term “make-up” brought with it a negative connotationmedicpredominantly the term Kabuki syndrome. Due to the fact that very few medical professionals are true professionals in the field of the disease, the syndrome has rarely been diagnosed. 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.
So far, the cause for which reasons the Kabuki syndrome can break out is unknown. Doctors assume a sporadic or spontaneous mutation of the genetic structure. So far, researchers have been able to rule out external circumstances or certain environmental conditions that trigger the genetic error.
In a few cases, children were already affected whose parents (or one parent) also carried the same mutation and were therefore affected by Kabuki syndrome. So far, however, there have been very few sufferers whose parents (or at least one parent) were also affected by Kabuki Syndrome. Also because the course of the disease varies and in many cases those affected cannot lead a regular life – in the sense of starting a family.
However, from the documented cases, it must be concluded that Kabuki syndrome is an autosomal dominant hereditary disease. The risk of the gene error being passed on is therefore 50/50.
Symptoms, Ailments & Signs
The syndrome has a very diverse and broad spectrum. Those affected suffer from arched and wide eyebrows, elongated eyelids, as well as a flat tip of the nose and large, protruding and cup-shaped ears. Many of those affected have a high palate, a cleft lip and palate or tooth anomalies. While children are of normal size at birth, growth slows down over time.
While at the beginning of research it could still be assumed that microcephaly was one of the characteristic symptoms, more and more cases became known that were not affected. Anomalies of the skeletal system (brachymesophalangia, brachydactyly V as well as clinodactyly of the fifth finger, dislocated or hyperextensible joints and anomalies of the spine) as well as dermatoglyphic anomalies of the fetal fingertip pads often arise.
In almost all cases there is an intellectual deficit of those affected; sometimes patients also complain of neurological symptoms and sometimes suffer from seizures or muscle hypotonia. The development of the affected person is usually delayed. Occasionally, autistic features, hearing loss and hyperactivity were also documented.
In a few cases, the sclera of those affected are bluish, which is reminiscent of the hereditary disease osteogenesis imperfecta (brittle bone disease). Congenital heart defects, septal defects, or left-sided obstructive lesions are also possible. Any malformations of the urinary tract and kidneys can also occur, with only 25 percent of those affected suffering from those symptoms and signs.
Diagnosis & course of disease
There are currently no tests available to easily and safely diagnose Kabuki Syndrome. Geneticists must therefore focus primarily on the specific traits. The diagnosis can therefore only be confirmed when the affected child has four of the five main characteristic features: skeletal abnormalities, characteristic facial features, mental retardation, dermatoglyphic abnormalities or postnatal short stature.
Furthermore, the doctor must also examine the characteristics of the face in detail. The disease courses of Kabuki syndrome are different. So far, there is little documentation, so it is not possible to explain exactly how Kabuki syndrome behaves. Furthermore, there are different manifestations of the syndrome.
While some children can live a reasonably normal life, there are forms that are so severe that those affected have to live with enormous limitations (problems with walking, standing, (speaking). It is not known whether Kabuki syndrome has an impact on the life expectancy of those affected, but cannot be entirely ruled out.
Kabuki syndrome is one of the few hereditary diseases that occur. Kabuki syndrome manifests itself in various congenital anomalies, particularly of the face, as well as changes in the skeletal structure, including short stature and partial intellectual disability. The external abnormalities can already be clearly seen in newborns, such as cleft palate and lips, sunken tip of the nose, protruding ears and overly long eyelids with arched eyebrows.
Complications related to the syndrome occur more frequently with increasing age. Due to the high susceptibility to infections, children with Kabuki syndrome are ailing and repeatedly suffer from colds and middle ear infections. Physical development is problematic, as those affected are prone to scoliosis, hip dysplasia, tooth anomalies and hyperextension of the finger joints. Even before adolescence, obesity and massive cardiovascular problems often occur.
If Kabuki children experience therapy measures in the form of speech therapy, physiotherapy and ergotherapy as well as psychologically supervised development support at an early stage, they can participate in school lessons as far as possible. With intensive medical care, further deficits can be identified, but only to a small extent can they be specifically treated.
The complexity of the disease and the resulting complications are significant. Adolescents affected by Kabuki develop spontaneous seizures and neurological disorders, and the syndrome leads to hearing loss in almost one in two. The life expectancy of those affected with Kabuki syndrome is reduced.
When should you go to the doctor?
If the newborn has any malformations or abnormalities, a doctor should be informed. Kabuki syndrome can be recognized immediately after the birth of the child by its clear symptoms. Parents who notice a cleft lip or palate, hearing problems or growth disorders in their child are best advised to consult their doctor. Hearing loss, hyperactivity and seizures are also clear warning signs that require clarification by a doctor. Close monitoring by the doctor is indicated during treatment.
Constant adjustment of the therapy is necessary, especially during the growth phase. Parents should inform the doctor of any unusual symptoms. In case of cramps or pain, the child should be taken to a hospital. The treatment of Kabuki syndrome is carried out by the general practitioner and various specialists depending on the symptoms and conditions at hand. Children should first be presented to a pediatrician. Those suffering from obesity must also consult a nutritionist. A comprehensive examination by the cardiologist is also required beforehand.
Treatment & Therapy
Due to the fact that no cause is known so far, the Kabuki syndrome can only be treated symptomatically. This means that the doctors mainly assess the severity of the syndrome and then plan the treatment accordingly. If there are any limitations in walking, standing or speaking, physical and speech therapy units are recommended.
If, on the other hand, malformations of the organs have been diagnosed, the physicians concentrate primarily on healing or treating the affected organs. For the physicians, life support and the alleviation of symptoms and pain are paramount. Any physical pain that may occur as the disease progresses is treated with medication. Here, too, it is generally only the symptoms that can be treated, but not the causes.
Outlook & Forecast
The most effective self-help for Kabuki syndrome is sufficient and regular exercise. This does not mean a daily marathon or endurance sport where you exhaust yourself. It is important to recognize your own limits and to have an experienced fitness trainer put together an individual training plan in cooperation with the doctor treating you. This plan should then be regularly adapted to your own progress.
With daily exercise, the affected person can sometimes regain significantly more control over their muscles and counteract the muscle hypotonia that usually occurs or counteract this if treatment is started early. In addition, the movement stimulates the circulation and promotes blood circulation, which supports the therapeutic effect.
In order to reduce the risk of injury in the event of seizures, care must be taken to ensure that the living environment is fall-proof. Laying carpeting instead of tiled floors can already reduce possible injuries from a fall due to the cushioned impact.
Last but not least, nutrition also plays a crucial role on the way to a better quality of life. A balanced magnesium balance reduces the intensity of cramps and this can be achieved not only with dietary supplements, but ideally through a consistent change in diet. This is where trained nutritionists can help, who take illnesses and allergies into account and put together the best individual diet.
Since no cause is known so far, Kabuki syndrome cannot be prevented. However, environmental influences, external causes or favorable factors can be completely ruled out.
In the case of Kabuki syndrome, the aftercare measures are very limited in most cases or are not available to the person affected at all. Follow-up care is not always necessary for this disease, since the disease cannot be completely cured. Since this is a hereditary disease, a genetic examination and counseling should always be carried out first if you want to have children, so that the Kabuki syndrome cannot recur in the descendants.
Early detection and treatment of the disease usually always has a positive effect on the further course. In most cases, the person affected with this disease is dependent on intensive measures of physiotherapy and physiotherapy. Some exercises from such therapies can also be repeated at home to further alleviate the symptoms.
Intensive care and help from friends and family are also very important in the case of Kabuki syndrome and can prevent and alleviate mental upsets or depression. The life expectancy of those affected may be reduced as a result of this disease, so that the parents or relatives of the patient should often also undergo psychological treatment.
You can do that yourself
Kabuki syndrome as a congenital hereditary disease cannot be treated. The associated intellectual disability is also irreversible. Effective everyday help must therefore target the other symptoms.
The main side effects are muscle hypotonia and various malformations. Muscle hypotonia in particular can be counteracted in everyday life. Daily muscle exercises can help those affected gain at least some control over their muscles. It is important that the limits of personal abilities are observed. 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 apartment makes sense in order to counteract possible injuries resulting from a fall. On the other hand, the dietbe put together with a view to a healthy magnesium balance in order to reduce the intensity of cramps. Dietary supplements are also a conceivable option.
Overall, however, regular exercise is the most important component of everyday self-help. As described, it counteracts muscular hypotonia, but also helps with symptoms affecting blood flow. Exercise stimulates the circulatory system and thus regulates the blood flow so that an adequate supply is ensured.