Kabuki syndrome is a rare, multi system disorder there is a problem with the KMT2D amd/or KMD6 gene, which regulates enzyme production for various organ systems.
These enzymes are associated with the production of ‘histones’, which are proteins that bind to DNA to provide structure to chromosomes and help activate genes associated with growth and development.
Kabuki syndrome are present at birth (congenital).
The incidence of Kabuki syndrome is unknown, but has been estimated to be somewhere between 1 in 32,000-86,000 individuals in the general population.
More than 400 affected individuals who have genetically proven Kabuki syndrome have been reported in the medical literature.
Although the disorder was first reported in Japan, Kabuki syndrome has since been reported in a wide variety of different ethnic group
This condition can cause severe low sugar levels in the first dew days of birth due to too much insulin produced.
Cause
Gene mutaion of KMT2D (formerly MLL2) , KDM6A
Dominant mutation in the KMT2D gene can then be passed on to the offspring of an affected individual.
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease.
The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual (de novo).
The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy. The risk is the same for males and females. Variable expressivity means that the disorder expresses itself in dramatically different ways from one person to another.
Most cases of Kabuki syndrome represent new, spontaneous gene mutations that occur with no previous family history.
The gene KDM6A is located on the X chromosome and is subject to X-linked inheritance. Women typically have two X chromosomes and men typically have one X and one Y chromosome. Women who have a mutation in KDM6A on one X chromosome generally have milder features of Kabuki syndrome compared to males who have a mutation in this gene, although exceptions exist.
It is also possible for a woman with a mutation in KDM6A to have no symptoms of Kabuki syndrome. Most cases of Kabuki syndrome caused by mutation in KDM6A are the result of a new mutation. However, it is possible for a woman with a mutation in KDM6A to pass on the condition to her children, even if she herself has mild or no symptoms of Kabuki syndrome.
For a woman with a KDM6A mutation, the risk of passing the abnormal gene to her offspring is 50 percent for each pregnancy. The risk is the same for males and females, however, female children may have milder or no symptoms of the condition.
An affected male will pass on the abnormal gene to all of his daughters but none of his sons.
Dental abnormalities such as missing, misaligned or misshaped teeth have been?
Short fingers and toes (brachydactyly), pinkies that are bent (clinodactyly)?
Abnormalities of the vertebrae, cranial malformations, and abnormal curvature of the spine (scoliosis or kyphosis)?
Abnormalities of the kidneys/Pain in pelvis area and/or lower back and/or intense pain in the back or side (or moving pain from back to side) or in groin area?
Incontinence?
Abnormalities of the penis (opening of penis in wrong place), testicles (failure of testicles to fall to right position), or vagina (Blockage of the vagina)/Underdevelopment or malformation of genitals and urinary tract?
Individuals with VWS can have lip pits alone, cleft lip or cleft palate alone, or a combination of these anomalies. The physical features associated with popliteal pterygium syndrome include cleft lip and/or cleft palate, lower lip pits, webbed skin (pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), malformation and/or underdevelopment of the genitals, webbing or fusion of the fingers and/or toes (syndactyly), adhesion of upper and lower jaw and adhesion of upper and lower eyelids. A cone-shaped fold of skin on the nail of the big toe is a very distinctive finding in this condition.
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Detailed Information
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