kabuki syndrome

Kabuki syndrome is a rare disease that probably has genetic causes. Children who suffer from it have different physical and mental problems, some of which we detail in this article.

Children affected by Kabuki syndrome do not have a shorter than normal life expectancy. Most of the medical problems they have can be solved by surgery. One of the most serious and dangerous symptoms of this disease are alterations in the viscera. It is also quite common for them to have coronary, heart, serious problems.

What is Kabuki syndrome?

Kabuki syndrome is a rare disease that provokes those suffering from it a number of distinctive physiological characteristics. It is believed that this syndrome is inherited from a dominant gene or from a recessive X-linked gene, but its cause is not yet clear.

It is considered a rare disease. There is no clear diagnostic method that detects this disease. The fact that there are relatively few adults known with this syndrome can be that the disease has recently been discovered. It was discovered in 1980 in Japan and in 1990 in Europe and America.

Instead we can talk about a number of typical physical characteristics, in particular facial, and some intellectual disability, such as developmental delay. There are also fingerprint alterations, presence of musculoskeletal disorders and congenital heart defects.

Symptoms

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, resembles the ocular physiognomy of the oriental ones.
  • Wide nose bridge with inward tip, large, handle shaped ears and thick and arched eyebrows.

These boys and girls are often stunted and are short in stature. They have skeletal alterations with the presence of fingerprint abnormalities, hyperlaxity and hypermobility or alterations of the spine. Muscle weakness is quite common, and sometimes they need a wheelchair to move. In fact, these children need physical therapy. These techniques are of great help to improve your motor skills and strengthen the musculoskeletal system.

Children with Kabuki syndrome also have a mild to moderate degree of intellectual disability, many of them with autistic characteristics. In some cases, neurological problems such as certain atrophy or microcephaly have to be linked to this. Visual and hearing problems are common, and sometimes seizures, with major epilepsy seizures. But all these problems do not have to occur seriously, but some are mild.

Treatment of Kabuki syndrome

Since Kabuki syndrome is a congenital disease that is not yet much knowledge, its treatment is very complicated. It focuses on improving the patient’s quality of life and treating symptoms. There is no known cure .

For the subject of intellectual disability, children with Kabuki syndrome receive an education tailored to their needs. Language delays, there is usually delay in speech, which is aggravated by low muscle tone, unusual features, can be treated with the help of occupational therapy.

Various surgeries may be necessary, because congenital alterations are common that can cause risk to survival, such as alterations in the heart and cardiovascular system, respiratory system, digestive tract and mouth.

As psychological therapy may be necessary to treat certain mental disorders that these children may suffer, but above all provide information and support to relatives. In fact, in Spain there is an association of relatives, which was established with the aim of being a reference point for these families. In addition to being a dissemination tool to collaborate in publicizing Kabuki syndrome and visualizing it.