What is Kabuki syndrome?

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Kabuki syndrome refers to a congenital disorder that affects both male and female children.  The common characteristics of this rare disease include mental retardation or delays in mental development and characteristic facial abnormalities.  The facial involvement in this disease is said to be similar to those used by the “kabuki” character in Japanese theater, hence the term “Kabuki syndrome”. When a child is diagnosed to have Kabuki syndrome, typical facial features include large earlobes that protrude outward, arched eyebrow area along with eyes that are set very wide and with thick eyelashes.  Most children with Kabuki syndrome also have nose tips that are either flat or broad.  These facial features alone can help doctors diagnose children with this very rare congenital disease.

The mental impairment of children with Kabuki syndrome may either be mild, moderate, or severe.  Some children will also have delays in their growth and development.  With this kind of problem, many children will be very short in stature based on their age groups.  The developmental delay is also accompanied by abnormalities in the children’s spine and other bones.  There are many patients who suffer from bone-related problems like spine curvatures and shortening of limbs and bones. Some sufferers of Kabuki syndrome will also have problems in their joints.  It is also not uncommon for patients with this rare disease to have a cleft palate or have dental-related problems.  In some cases, children with this disease will have affectation to various parts of the body including problems pointing to the heart and ears among many others.

Kabuki syndrome is known to be caused by mutations in some identified genes in the body.  These genes are also found to be hereditary and so can be passed on from one generation to the next.  Once the mutation becomes evident, the disorder will start to present itself with various signs and symptoms.  In terms of treatment, early intervention is considered to be the most important aspect.  Depending on the severity, patients will typically undergo several therapy sessions for speech and movement among others.

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