There are a large number of rare and little-known diseases that do not receive enough attention. These disorders cause great suffering for 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 ways to cure them or to alleviate or delay their progression.
One of these little known diseases is Kabuki syndrome which this article is about.
Kabuki syndrome is a strange and unusual disease in which the sufferer manifests a series of distinctive physiological characteristics along with an intellectual disability and physiological alterations that can be very serious.
Kabuki syndrome is considered a rare disease, with relatively low prevalence and with characteristics and causes that are little explored and known. In fact, There are still no clear diagnostic methods to detect this disease, beyond the observation of the typical characteristics and development of the minor.
In general, it is considered that the most characteristic signs are facial alterations, intellectual disability, developmental delay, fingerprint alterations and the presence of musculoskeletal alterations and congenital heart disease.
Despite its seriousness, the life expectancy of babies born with this disease It may not be less than usual, although this depends largely on the complications that may arise, especially with regard to cardiac and visceral alterations.
The symptoms
At a physiological level, people with this disease usually present 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 inner part of the eyelids to be seen from the outside), elongated lateral opening of the eyelids in a way that resembles the ocular physiognomy of oriental people, a wide nose bridge with the tip inward, large, handle-shaped ears and thick, arched eyebrows. The teeth also often present alterations.
In addition to that They usually have delayed growth 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 spinal column. Hypotonia or muscle weakness is also very common, sometimes requiring a wheelchair to move around.
Subjects with Kabuki syndrome also present a mild to moderate degree of intellectual disability, in some cases along with neurological problems such as atrophy or microcephaly.
It is common that they also present visual and hearing problems , as well as sometimes seizures. It is also common for them to have a 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 , it is very common for the majority of patients to present serious coronary problems such as coarctation of the aorta artery and other heart diseases. Other parts of the body affected are usually the urogenital and gastrointestinal systems.
An unclear etiology
From the time Kabuki syndrome was first described in 1981 The origins and causes of this disorder have been a mystery there being a great lack of knowledge of its causes throughout history since its discovery.
Despite this, current advances have made it known that it is a congenital disease and not an acquired one, 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 They have some type of mutation in the MLL2 gene , which participates in the regulation of chromatin. However, it must be taken into account that other cases do not present these alterations, so a polygenic cause of this disorder can be suspected.
Because it is a congenital disease about which there is still little knowledge, Its treatment is complicated and focused on improving quality of life of the patient and the treatment of symptoms, since there is no known cure.
It must be taken into account that People with Kabuki syndrome usually have a level of intellectual disability mild to moderate, which makes it necessary for them to have an education adapted to their needs. It is also common that they present some typically autistic traits.
Language delays and the presence of behavioral disinhibition can be treated with the help of language therapies, and occupational therapy may be useful so that they learn to better manage basic skills for daily life. On some occasions they may require a wheelchair to get around. Physiotherapy can be of great help when it comes to improving your motor skills and strengthening your musculoskeletal system.
Medically they have to undergo regular check-ups and may be necessary the application of various surgeries given that they frequently present congenital alterations that pose a risk to their survival, such as alterations in the heart and cardiovascular system, the respiratory system, the digestive tract and the mouth.
The presence of hernias, poor absorption of nutrients and atresias or occlusions of natural openings such as one of the nasal passages may also require surgical or pharmacological treatment.
Regarding psychological therapy may be necessary to treat some of the mental disorders that these subjects may suffer, as well as to provide information and educational guidelines to both the subject and their environment.
