WHAT IS KABUKI SYNDROME? (Also known as Niikawa-Kuroki syndrome)

Kabuki syndrome is a rare disorder. There are more than 300 individuals with Kabuki Syndrome published worldwide, but it is likely that there are many more that are not published. It was first described in 1981 by Niikawa and Kuroki who observed several children with similar characteristics.

There are many features which can occur in Kabuki Syndrome but not all are seen in every child. Features seen in Kabuki syndrome are:

• unusual facial features.
  • wide eyes with arched, interrupted eyebrows
  • large and low-set ears
  • depressed nasal tip
• Short stature. Most children with Kabuki syndrome are below the 50th centile for height for their age.
• Skeletal abnormalities such as short fingers, loose joints.
• Intellectual disability, which varies from mild to severe. Most individuals with Kabuki Syndrome have a mild to moderate intellectual disability.
• Many other abnormalities are sometimes seen:
  • Cleft lip and palate
  • Cardiac abnormalities
  • Urogenital and kidney problems
  • Ano rectal and intestinal problems
  • Immune abnormalities
  • Ear infections and hearing loss

The cause of Kabuki Syndrome is not known. It is thought to be a genetic problem and research is ongoing to try to identify the cause. In most cases of Kabuki syndrome, there is no family history of the syndrome. Kabuki syndrome is found in males and females equally.

There is no cure for Kabuki syndrome but there is a lot that can be done to ensure good health in a person with Kabuki syndrome, and to make sure that each person with Kabuki syndrome achieves their full potential.

Health care professionals that are likely to be involved include a paediatrician, geneticist, and other specialists depending on the problems in the child. Most children will require the input of speech therapists, physiotherapists and other allied health professionals.

Reference: American journal of Medical Genetics 127A:118-127 (2004)
Reviewed by: Dr Sue White—Clinical Geneticist, Jan 2008.