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Kabuki Syndrome



Kabuki Syndrome Appearance


The appearance of the face of patients of this syndrome include: long eyelids; a nasal tip that appears depressed and broad; earlobes appear largely prominent; and high-arched or cleft palate. Clinical features that are also attributed to the Kabuki syndrome include: a shortened fifth finger; scoliosis; fingerpads; X-ray defects of the hands, hip joints, and vertebrae; and recurring infections of the ear especially in infancy. This syndrome can be acquired through X-linked recessive or autosomal dominant inheritance. Many chromosomal defects have been recorded but none of these appear to be unique to Kabuki syndrome. Numerous authors have advised that the word ‘makeup’ be taken off from the term because some families of the patients believe the term to be offensive.


Kabuki Syndrome Characteristics and Features


There are various congenital concerns that are linked with the Kabuki syndrome. Some of the most common health concerns include heart ailments (which comprise 30%), urinary tract defects, loss of hearing (50%), hypotonia, and deficiency on postnatal growth (83%). Other features include abnormality of the skeletal system, laxity of the joints, short stature, and abnormal dermatoglyphic patterns. Most of these are sporadic but there are also some familial cases that have been documented. There could also be a mild to average intellectual disability (92%) among the patients. Children with Kabuki syndrome have distinct behaviors. For instance, 50% of them are observed to be uniquely sociable, 30% of them have minimal interaction with other people; liking routine is at 74%, and 87% have a happy disposition. A few of the patients have normal intelligence (some are observed to have a very good memory but lacking in speech and motor skills). There is no proof that those who have the Kabuki syndrome live short lives. Medical intervention often resolves any issues that are encountered with this syndrome. It was only recently discovered because very few have it (discovered in Japan in 1980 and in America and Europe in 1990).


Kabuki Syndrome Definition


Kabuki syndrome also called as Kabuki makeup syndrome (KMS) or Niikawa Kuroki syndrome in the past, is a rare pediatric inborn disease. This congenital disorder has no known cause and comes with numerous inborn anomalies and retardation of mental development. It was discovered by Niikawa and Kuroki who were Japanese scientists. It was named Kabuki syndrome because the individuals who are affected by this illness look like Kabuki dolls or Kabuki performers who are wearing white makeup. The name term Niikawa-Kuroki syndrome, obviously, relates to the two scientists who made the discovery of the illness.


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