Kabuki syndrome is a genetic condition that affects facial development, causing people to have high arched eyebrows, thick eyelashes, wide noses, and other structural features that resemble Kabuki actors. It can also cause developmental delays, short stature, and behavioral abnormalities. While there is no cure, early diagnosis and management can help support patients as they grow.
Kabuki syndrome (KS) is an unusual genetic condition characterized by the effect it has on facial development. People with Kabuki syndrome have high arched eyebrows, thick eyelashes, wide noses, and other structural features that cause their faces to resemble the full makeup worn by Kabuki actors. At one time, Kabuki syndrome was known as Kabuki make-up syndrome, in reference to this fact, but the “make-up” was later dropped because some parents found it offensive. The distinctive facial appearance of children with Kabuki syndrome can aid in diagnosing the condition if a patient gets to see one of the few doctors who is experienced with this genetic disorder.
The syndrome was first described by Japanese physicians Dr. Niikawa and Dr. Kuroki in 1981. It is sometimes known as Niikawa-Kuroki syndrome for this reason. Doctors have been unable to identify the chromosome involved in the manifestation of Kabuki syndrome, with later research suggesting it could be the X chromosome, although as of 2009 this had not been confirmed. Kabuki syndrome is thought to be the result of a minor chromosome deletion.
Like many genetic disorders, Kabuki syndrome rarely presents in the same way. Most of those affected have the characteristic facial abnormalities that gave the syndrome its name, and many experience developmental delays, unusually short stature, and behavioral abnormalities. Patients may also develop heart defects, urinary tract problems, abnormal dentition, hearing problems, precocious puberty, seizures, and recurring infections. Not all of these symptoms will necessarily appear, and some people with Kabuki syndrome lead relatively normal lives, needing minimal, if any, assistance to navigate the world.
This condition is not curable, but it can be managed. Early diagnosis is crucial, as it will allow a medical team to begin evaluating the patient before major problems emerge. The comprehensive evaluation includes tests to check endocrine function, ultrasound imaging studies to look for abnormalities in organ systems, and neurological evaluations to determine whether or not the patient’s brain is involved. The results of these tests can be used to develop a treatment plan to support the patient as they grow.
Parents of a child who has been diagnosed with Kabuki syndrome may wish to meet with a geneticist. The geneticist can run tests to look for other genetic abnormalities and can talk to parents about long-term management of kabuki. Parents should keep in mind that genetic abnormalities such as Kabuki syndrome are not their fault.
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