Kabuki syndrome

Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa Kuroki Syndrome, is a very rare pediatric congenital disorder of unknown cause with multiple congenital anomalies and mental retardation. It was discovered by two Japanese scientists, Niikawa and Kuroki. It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white Kabuki makeup, a Japanese traditional theatrical form. The name Niikawa-Kuroki Syndrome relates to the two Japanese doctors who first described this syndrome. On the Kabuki Syndrome listserv, children with this syndrome are called Kabuki Kids, or KKs.

Description
There is a wide range of congenital problems associated with Kabuki syndrome with large differences between affected individuals. Some of the common problems are heart defects (30%), urinary tract anomalies, hearing loss (50%), hypotonia, and postnatal growth deficiency (83%). Other characteristics include skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. It is mostly sporadic, although some familial cases have been reported.

In terms of development, mild to moderate intellectual disability (92%) is a common feature. Also, children with Kabuki syndrome often have distinctive behavioural features. For example, 50% are described as unusually sociable, 30% as engaging in only minimal interaction with others, 74% as liking routine and 87% as having a happy disposition. A few have normal intelligence, most of whom have learning differences such as struggling with fine motor and speech skills and having a good memory.

There is no indication that the life expectancy of individuals with Kabuki syndrome is shortened. Most medical issues are resolved with medical intervention. The fact that there are relatively few adults known with this syndrome is probably related to its recent discovery in 1980 in Japan and around 1990 in Europe and America.

Appearance
The facial appearance of individuals with this syndrome includes the following:


 * long eyelids with turning up of the lateral third of the lower eyelid
 * a broad and depressed nasal tip
 * large prominent earlobes
 * a cleft or high-arched palate

Other clinical features often include:


 * scoliosis,
 * short fifth finger
 * persistence of fingerpads
 * X-ray abnormalities of the vertebrae, hands, and hip joints
 * recurrent ear infections in infancy

Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them appear to be specific to Kabuki Syndrome.

Several authors have recommended that the term 'make-up' be removed from the designation of this syndrome because some families considered the term objectionable.