What is Kabuki syndrome?
Kabuki syndrome (pcs) is an unusual genetic state characterized by the result that has a face development. People with Kabuki syndrome have tall, vaulted eyebrows, strong eyelashes, wide noses and other structural features that cause their faces to resemble a full facial make -up that wears the actors Kabuki. Suddenly Kabuki was known as Kabuki Make -up syndrome, which referred to this, but "make -up" was later dropped because some parents considered it offensive. A significant appearance of children with kabuki syndrome can facilitate the diagnosis of the condition if patients can see one of the few doctors who have experience with this genetic disorder. Doctors were unable to identify the chromosome involved in the manifestation of Kabuki syndrome, with later research indicating that this may be chromosome X, although since 2009 it has not been confirmed. Kabuki syndrome is considered to be a result of a minor chromosome deletion.
Like many genetic failures, Kabuki rarely represents the same way in the same way. Most of the affected people have significant facial abnormalities that gave their name syndrome, and much experience in developing, unusually short figures and abnormalities of behavior. Patients can also develop heart defects, urinary tract problems, abnormal teeth, auditory disorders, early puberty, seizures and repeating infections. These symptoms do not necessarily occur, and some people with Kabuki's syndrome lead relatively normal lives and need minimal help, if they exist, for navigation around the world.
This condition is not curable, but can be managed. Early diagnosis is crucial, as this will allow the medical team to start evaluating before major problems will occur. Complete evaluation includes tests for checking endocrine function, ultrasound imaging studies looking for abnormalities in organ systems and neurological assessments to makeIt determined whether the patient's brain is involved. The results of these tests can be used to create a treatment plan to support the patient as it grows.
parents with a child who was diagnosed with Kabuki's syndrome may want to meet a geneticist. A geneticist can perform testing to seek other genetic abnormalities, and he or she can talk to his parents about long -term Kabuki management. Parents should remember that genetic abnormalities such as Kabuki syndrome are not their mistake.