Kabuki syndrome: symptoms, causes and treatment

March 30, 2024

There are a large number of rare and little-known diseases that do not get enough attention. These disorders are a great suffering for the people who suffer them and their families, who can not understand what is happening, how and why with their loved one.

The lack of research and the few known cases make it difficult to determine the causes as well as ways to cure them or to alleviate or delay their progress.

One of these little-known diseases is Kabuki syndrome , about which this article deals.

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What is Kabuki syndrome?

Kabuki syndrome is a strange and unusual disease in which the sufferer manifests a series of Distinctive physiological characteristics together with an intellectual disability and physiological alterations that can be very serious.

Kabuki syndrome is considered a rare disease, with relatively little prevalence and with little known and explored characteristics and causes. In fact, there are still no clear diagnostic methods to detect this disease, beyond the observation of the typical characteristics and the development of the minor.

In general, it is considered that the most characteristic signs are facial alterations, intellectual disability, developmental delay, finger changes and the presence of musculoskeletal disorders and congenital heart diseases.

Despite its severity, the life expectancy of babies born with this disease it may not be less than usual, although this depends to a large extent on the complications that may arise especially with regard to cardiac and visceral alterations.

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The symptoms

Physiologically, people with this disease usually present characteristic facial features , as the presence of eversion of the lateral third of the lower eyelid (excessive folds in the skin of the eyelids that allow to see the inner part of this from the outside), lateral opening of the elongated eyelids in a way that resembles the ocular physiognomy of the oriental people, wide nasal bridge and with the tip inwards, big ears and in the form of handle and thick and arched eyebrows. The teeth also tend to have alterations.

In addition to it tend to be stunted and have short stature , presenting skeletal alterations such as the presence of finger anomalies (especially dermatoglyphic alterations and persistence of fetal padding), hypermobility and hypermobility or alterations of the spine. Hypotonia or muscle weakness is also very common, sometimes requiring a wheelchair to move.

Subjects with Kabuki syndrome also have a mild to moderate degree of intellectual disability, in some cases with neurological problems such as atrophy or microcephaly.

Often they also present visual and auditory problems , as well as sometimes convulsions. It is also common to have cleft palate and swallowing difficulties, or very narrow airways that make breathing difficult.

One of the most serious and dangerous symptoms of this disease is that it causes alterations in the viscera , being very common that the majority of patients present serious coronary problems like coarctation of the aorta artery and other cardiopathies. Other parts of the body affected are usually the urogenital and gastrointestinal systems.

An etiology not too clear

From the moment when Kabuki syndrome was first described in 1981 The origins causes of this disorder have been an unknown , there is a great ignorance of its causes throughout history since its discovery.

Despite this, the current advances have caused that it is known that it is a congenital and not acquired disease, probably of genetic origin .

Specifically, it has been identified that a large part of the people (around 72% of those affected) who suffer from this strange disease have some type of mutation in the MLL2 gene , which participates in the regulation of chromatin. However, it must be borne in mind that other cases do not present these alterations, so that a polygenic cause of this disorder can be suspected.

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Treatment

Because it is a congenital disease that is not yet widely known, its treatment is complicated and focused on improving the quality of life of the patient and the treatment of the symptoms, since there is no known cure.

You have to bear in mind that People with Kabuki syndrome usually have a level of intellectual disability from mild to moderate that makes it necessary for them to have an education adapted to their needs. It is also common that they present some typically autistic features.

Language delays and the presence of behavioral disinhibition can be treated with the help of speech therapies, and Occupational therapy may be useful in order to learn to better manage basic skills for daily life. Sometimes they may need a wheelchair to get around. Physiotherapy can be very helpful when it comes to improving your motor skills and strengthening your musculoskeletal system.

Medically they have to undergo regular checks and may be necessary the application of various surgeries , since it is common that they present congenital alterations that cause a risk for their survival, such as alterations in the heart and cardiovascular system, the respiratory system, the digestive tract and the mouth.

The presence of hernias, malabsorption of nutrients and atresias or occlusions of natural openings such as, for example, one of the nasal passages may also require surgical or pharmacological treatment.

In what refers to psychological therapy , it may be necessary to treat some of the mental alterations that these subjects may suffer, as well as to provide information and educational guidelines to both the subject and their environment.

Bibliographic references:

Niikawa, N .; Matsuura, N .; Fukushima, Y .; Ohsawa, T. & Kajii, T. (1981). Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr; 99: 565-569.