El Kabuki syndrome is a rare disease which probably have genetic causes. Children who suffer from it have different physical and mental problems, some of which we will detail in this article.
Children affected by Kabuki syndrome they do not have a shorter life expectancy than is considered normal. Most of the medical problems they have can be solved by surgery. One of the most serious and dangerous symptoms of this disease is the alterations in the viscera. It is also quite common for them to have serious coronary and heart problems.
What is Kabuki syndrome?
El kabuki syndrome is a weird illness that causes those who suffer from it a series of distinctive physiological characteristics. This syndrome is believed is inherited from a dominant gene or from a recessive gene linked to the X chromosome, but its cause is not yet very clear.
It is considered a rare disease. There is no clear diagnostic method that detects this disease. The fact that there is relatively few known adults with this syndrome it may be that the disease has only recently been discovered. It was discovered in 1980 in Japan and in 1990 in Europe and America.
On the other hand, we can speak of a series of typical physical characteristics, particularly facial, and certain intellectual disabilities, such as developmental delay. There are also finger alterations, the presence of musculoskeletal alterations and congenital heart disease.
Symptom
As we have said, boys and girls with Kabuki syndrome have characteristic facial features. Some of them are:
- Presence of eversion of the lateral third of the lower eyelid, lateral opening of the elongated eyelids, it resembles the ocular physiognomy of the Orientals.
- Wide nasal bridge and pointed inward, large, handle-shaped ears and thick, arched eyebrows.
These boys and girls usually present stunting and short stature. They have skeletal alterations with the presence of fingerprint abnormalities, hypermobility and hypermobility or alterations of the spine. Muscle weakness is quite common, and they sometimes need a wheelchair to get around. In fact, these children need physical therapy. These techniques are of great help to improve your motor skills and strengthen the musculoskeletal system.
Boys and girls with Kabuki syndrome also have a mild to moderate degree of intellectual disability, many of them with autistic characteristics. To this must be added, in some cases, neurological problems such as certain atrophy or microcephaly. Visual and hearing problems are common, and sometimes seizures, with significant seizures of epilepsy. But all these problems do not have to be serious, some are mild.
Kabuki syndrome treatment
How Kabuki syndrome is a congenital disease Of which there is not much knowledge yet, its treatment is very complicated. This focuses on improving the patient's quality of life and treating symptoms. There's no cure known.
For the issue of intellectual disability, boys and girls with Kabuki syndrome receive a adapted education to your needs. The language delays, there is usually a delay in speech, which is aggravated by low muscle tone, unusual features, can be treated with the help of occupational therapy.
It may be necessary to application of various surgeries, because congenital alterations that can cause risk for their survival are frequent, such as alterations in the heart and cardiovascular system, the respiratory system, the digestive tract and the mouth.
As psychological therapy, it may be necessary to treat certain mental disorders that these children may suffer, but above all to provide information and support to family members. In fact in Spain there is an association of relatives, which was established with the aim of being a point of reference for these families. In addition to being a dissemination tool to collaborate in publicizing Kabuki syndrome and visualizing it.