Kabuki syndrome: symptoms, causes and treatment

There is a lot of rare and little-known diseases that don’t get enough attention. These disorders are a great suffering for the people who suffer from them and their families, who cannot 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 both the causes and the means to cure or mitigate or delay their progression.

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

    What is Kabuki syndrome?

    Kabuki syndrome is a strange and unusual illness in which the victim exhibits a series of distinctive physiological characteristics accompanied by intellectual disability and physiological alterations which can be very serious.

    Kabuki syndrome is considered a rare disease, with a relatively low prevalence and little explored and known characteristics and causes. In fact, clear diagnostic methods do not yet exist to detect this disease, beyond the observation of the typical characteristics and development of the child.

    The most characteristic signs are generally considered to be facial alterations, intellectual disability, developmental delay, alterations of the fingers and the presence of musculoskeletal alterations and congenital heart disease.

    Despite its severity, the life expectancy of babies born with this disease it may not be lower than normal, although this largely depends on the complications that may arise, particularly with regard to cardiac and visceral changes.


      Physiologically, people with this disease usually have characteristic facial features, Such as the presence of eversion of the lateral third of the lower eyelid (excessive folds in the skin of the eyelids that allow the inside of the eyelid to be seen from the outside), lateral opening of the eyelids elongated in a manner that resembles the ocular physiognomy of oriental peoples, broad nasal bridge and with the tip inward, large handle-shaped ears and thick arched eyebrows. Teeth also tend to show alterations.

      Furthermore they tend to be stunted and low rise, With skeletal alterations such as the presence of finger abnormalities (including dermatoglyphic alterations and persistent fetal padding), hyperlaxity and hypermobility, or alterations of the spine. Hypotonia or muscle weakness is also very common, sometimes requiring a wheelchair to be able to move.

      People with Kabuki syndrome also have a mild to moderate degree of intellectual disability, in some cases alongside neurological problems like atrophy or microcephaly.

      They often present more visual and hearing problems, As well as occasional seizures. It is also common for them to have a pale palate and difficulty swallowing, or very narrow airways that make it difficult to breathe.

      One of the most serious and dangerous symptoms of this disease is that it causes changes in the visceraIt is very common for most patients to have severe coronary artery disease such as aortic artery coarctation and other heart disease. The other parts of the body affected are usually the urogenital and gastrointestinal systems.

      A not too clear etiology

      From the time Kabuki syndrome was first described in 1981 the root causes of this disorder are unknownThere has been a great deal of ignorance of its causes throughout history since its discovery.

      However, current advances have made it known that it is a congenital disease and not acquired. probably genetic.

      Specifically, it has been identified that a large portion of the people (around 72% of those affected) who suffer from this strange disease they have a kind of mutation in the MLL2 gene, Which participates in the regulation of chromatin. However, it should be borne in mind that other cases do not exhibit these alterations, so you may suspect a polygenic cause of this disorder.


        Because it is a congenital disease of which he is not yet well aware, its treatment is complicated and focused on improving the quality of life the patient and treatment of symptoms, as there is no known cure.

        It should be noted that people with Kabuki syndrome usually have a level of intellectual disability from mild to moderate which requires them to have an education adapted to their needs. It is also common for them to have typically autistic traits.

        Language delays and the presence of behavioral disinhibition can be treated with language therapy, and occupational therapy can be helpful so that they learn to better manage the basic skills of daily living. Sometimes they may need a wheelchair to get around. Physiotherapy can be very helpful when it comes to improving their motor skills and strengthening their musculoskeletal system.

        Medically, they should undergo regular check-ups and may be necessary the application of various surgeriesAs they are common in congenital disorders that pose a risk to their survival, such as disorders of the heart and cardiovascular system, respiratory system, digestive tract and mouth.

        The presence of hernias, poor absorption of nutrients, and atresia or occlusions of natural openings such as any of the nostrils may also require surgical or pharmacological treatment.

        As for psychological therapyIt may be necessary to address some of the mental disorders that these subjects may suffer from, as well as to provide information and instructional guidelines both on the subject and its surroundings.

        Bibliographical references:

        • Niikawa, N .; Matsuura, N .; Fukushima, Y .; Ohsawa, T. and Kajii, T. (1981). Kabuki makeup syndrome: mental retardation syndrome, unusual facial features, large protruding ears and postnatal growth retardation. J Pediatrician; 99: 565-569.
        • Suárez, J .; Ordóñez, A. and Contreras, G. (2012). Kabuki syndrome. A pediatrician, 51-56.

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