AUSTRALIAN KABUKI SYNDROME ASSOCIATION INC.

 

KABUKI SYNDROME

 
    Kabuki syndrome is a rare condition that affects males and females in equal numbers. It is a genetic cause of developmental delay, occurring in about 1 in 32,000 births. The exact gene(s) involved are not known.
The syndrome has been under diagnosed but as more geneticists become aware of the condition the number of known Kabuki children is increasing.
In 1981 two doctors, Dr. Niikawa and Dr,. Kuroki, working independently in Japan first described the syndrome. As the facial features of this condition has a likeness to that of the actors in Kabuki traditional Japanese theatre, Kabuki was chosen for the name of the syndrome.

The most distinguishing features of Kabuki syndrome are the facial features:

 

 

  • high/ arched interrupted eyebrows
  • long/thick eyelashes
  • eversion of the lower lateral eyelid
  • broad and or depressed nasal tip
  • cupped/large low set ears

There are many other characteristics that can occur but not all Children manifest
all of these conditions.

  • cleft or high arched palate
  • missing teeth or abnormally shaped teeth
  • feeding problems
  • mild to moderate intellectual delay
  • short stature
  • abnormalities of the skeleton / joint laxity / hypotonia/loose joints
  • unusual skin ridge patterns on the fingers, toes, palms of the hands and soles of the feet
  • heart defects - urogenital /kidney – and rectal/intestinal
  • immune deficiency - ear infections and hearing loss (over 50%)

Download Further Information

Centre for Genetics Education
http://www.genetics.com.au/

SOUTH AUSTRALIAN CHILD AND YOUTH HEALTH
www.cyh.com

BETTER HEALTH
www.betterhealth.vic.gov.au

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AUSTRALIAN KABUKI SYNDROME ASSOCIATION INC.2008