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Kabuki syndrome is a rare genetic disorder that occurs in around one in 32,000 births. It was first described in 1981 by scientists Norio Niikawa and Yoshikazu Kuroki who observed several children with similar characteristics. Kabuki syndrome is also known as KMS or Niikawa–Kuroki
Children with Kabuki syndrome may have a number of features in common, including distinctive facial features, skeletal (bone) abnormalities, neurological (brain) abnormalities and various health problems.
There is no cure; however, a range of health professionals can help manage your child's health challenges and help them reach their full potential.
There are many characteristics that can occur in children with Kabuki syndrome, but not all of these are seen in every child. If your child has Kabuki syndrome, they may have:
Often, children with Kabuki syndrome will display some of the medical problems at birth. For some children, the condition becomes more apparent over time, and you (or your Maternal and Child Health Nurse) may notice that your baby is not developing normally.
If your child has some of the signs of Kabuki syndrome or you are worried at all, see your GP. You may be referred to a geneticist.
Treatment for Kabuki syndrome depends on the symptoms and needs of the child. There are a lot of things that can be done to ensure your child is in good health if they have Kabuki syndrome, and to help them reach their full potential.
Health care professionals that are likely to be involved in your child's care include a paediatrician, geneticist and other specialists depending on the problems your child experiences. Most children will require the input of speech therapists, physiotherapists and other allied health
The cause of Kabuki syndrome is not known, and research is ongoing to try to find the cause. It is thought to be a genetic problem. Parents of affected children are seldom affected themselves, meaning it is usually a new genetic change. Kabuki syndrome is found in males and females
If my child has Kabuki syndrome, how likely is it that any
future children I have will also be affected?
It is very unlikely as the genetic abnormality that causes
Kabuki syndrome is usually a new change, where the parents are not affected.
This is something you should discuss with your child's geneticist. Genetic
testing is available for adults.
What is the long-term outlook for children with Kabuki
Because Kabuki syndrome is so rare, it is difficult to know
what the long-term outlook will be. Every child is affected in different ways.
Generally, people with Kabuki syndrome have a normal life-span, but require
ongoing medical supervision and support.
What support can I access for my child?
Your paediatrician or geneticist can provide you with
support, and there are online forums and groups dedicated to parents of
children with Kabuki syndrome.
Developed by The Royal Children's Hospital and SAKKS, in consultation with the Victorian Clinical Genetics Service. We acknowledge the input of RCH consumers and carers.
Reviewed June 2018.
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