Kabuki Syndrome is a very rare genetic condition which affects approximately 1 in 32,000 births worldwide.
Kabuki Syndrome is complicated and has been underdiagnosed due to a lack of awareness amongst the medical profession.
People with Kabuki Syndrome often have congenital heart defects, hypertonia, feeding difficulties, cleft palate, speech and language delay, hearing problems, learning difficulties and kidney abnormalities, to name just a few.
Kabuki Syndrome was first described in Japan in 1981, by two Japanese doctors, Dr Niikawa and Dr Kuroki. It was later described in Europe and America around 1990.
Other names used for the syndrome are ‘Kabuki make-up syndrome’, KMS or Niikawa–Kuroki Syndrome. The term ‘Kabuki make-up syndrome’ was originally coined as the facial features of KS children are often similar to the make-up used in a form of Japanese theatre called Kabuki, but the ‘make-up’ part of the name was dropped as it was felt this could be potentially offensive to people with KS.
It is a very rare paediatric congenital (ie. present from birth) condition which consists of multiple physical and developmental problems.
In 2010 scientists discovered genetic alterations that account for most cases of Kabuki syndrome, this allowed for more concrete diagnosis.