Kabuki syndrome (also formerly called kabuki makeup syndrome, KMS or Niikawa--Kuroki Syndrome), is a pediatric congenital illness of suspected genetic origin with numerous congenital anomalies and intellectual disabilities. It's fairly uncommon, affecting roughly one in 32,000 births. It had been identified and explained in 1981 by two Japanese teams, headed to the scientists Norio Niikawa and Yoshikazu Kuroki. It's named kabuki syndrome due to the facial similarity of affected people to stage makeup employed in kabuki, a Japanese traditional theatrical form.

Signs and symptoms

There's a vast variety of congenital difficulties linked with kabuki syndrome with big differences between individuals that are affected. Some of the common problems are heart defects, urinary tract anomalies, hearing loss, hypotonia, recurrent ear infections and postnatal growth deficiency. Other characteristics other features include skeletal abnormality, joint laxity, short stature, and strange dermatoglyphic patterns.

Concerning growth, gentle to moderate intellectual impairment is a frequent feature. Additionally, kids with kabuki syndrome frequently have distinctive behavioral capabilities. Some have normal intellect, most people who have learning issues like fighting with fine motor, language abilities, and memory.

There's absolutely no sign that the life expectancy of people with kabuki syndrome is shortened. Most medical problems are solved with medical intervention. The simple fact that there are comparatively few adults understood with this syndrome is most probably associated with the current discovery in 1980 in Japan and about 1990 in Europe and America.

Causes

Kabuki syndrome is an autosomal dominant disease and may be caused by loss-of-function mutations in two distinct genes.Hundreds of mutations are identified in diagnosed with kabuki syndrome sufferers for these enzymes. KMT2D, previously referred to as the MLL2 gene, is located on chromosome 12 and is among those genes involved in the progression of the disease. A mutation at the KMT2D gene leads to a loss of role for the protein that this gene codes for, which can be a lysine (K)-specific methyltransferase 2D enzyme. KDM6A is just another gene, which when mutated, may result in kabuki syndrome. This mutation creates a nonfunctional lysine (K)-special demethylase 6A. This gene is located on the X chromosome. Both of these genes belong to a family of enzymes known as chromatin-modifying enzymes. These enzymes transfer methyl groups off and on histones to regulate genes through epigenetic pathways. Epigenetic activation of particular developmental genes is diminished by loss of either enzyme and cerebral abnormalities occur, resulting in the qualities of kabuki syndrome sufferers. The particular developmental genes have never been completely identified. It's seen that a vast majority of those cases are because of de novo mutations (those existing in the subject although not at the parents). It's very important to be aware that a proportion of individuals didn't display a mutation in either gene; additional causes are now being researched.

Treatments

The remedies of kabuki syndrome continue to be developed because of the hereditary nature. The very first step to remedy is identification. Following identification, the treatment of health conditions can frequently be treated by clinical intervention. Additionally, there are choices at psychotherapy for young kids with this disease, in addition to the household of their kid. Genetic counselling can be obtained as a preventative therapy for kabuki syndrome since it can be inherited and voiced by simply having a single copy of the mutated gene.


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