Kabuki syndrome

Also known as: Kabuki Make-up syndrome; Niikawa-Kuroki syndrome

Kabuki syndrome is a genetic condition that results in a typical pattern of physical and developmental problems. The facial features of the affected individuals resemble the characters in the Japanese Kabuki theatre, hence the name of the condition.

In this article

What are the symptoms of Kabuki syndrome?

Children and adults have a distinctive facial appearance with long eye openings that may slant upwards, arched eyebrows and prominent ears.

Almost half the children with Kabuki syndrome have congenital heart defects (see entry Heart Defects). Other physical features include cleft palate or palatal dysfunction (see entry Cleft Lip and/or Palate), kidney, bowel and/or dental problems. Most infants with Kabuki syndrome are hypotonic (floppy) and loose jointed. Many children require tube feeding in infancy and some need a gastrostomy. Feeding difficulties tend to resolve with age.

Young children with Kabuki syndrome are susceptible to infections, especially ear infections and many require surgery for middle ear problems. Immunological abnormalities may include ITP (see entry Immune Thrombocytopenia) and haemolytic anaemia.

Kabuki syndrome is associated with speech (see entry Speech and Language Impairment) and motor delay with mild-to-moderate learning disability. Most children require extra help in school. The degree of learning disability varies considerably, and a few individuals have almost age-appropriate general intelligence.

Some children have a growth hormone deficiency, but most children grow slowly and their final height is usually below that which would be predicted by parental heights. Many children have a head size which is below the normal range. Many individuals tend to put on weight, particularly around the trunk, from mid-childhood.

What are the causes of Kabuki syndrome?

About 55-80 per cent of patients have a mutation in the KMT2D gene (previously called MLL2), located on chromosome 12, and around five per cent have mutations in the KDM6A gene (also called UTX) located on the X-chromosome. In a small proportion of cases of Kabuki syndrome, the underlying genetic abnormality remains unknown.

How is Kabuki syndrome diagnosed?

Kabuki syndrome is usually diagnosed on the basis of the clinical and developmental features, and is confirmed by testing of the KMT2D and KDM6A genes.

How is Kabuki syndrome treated?

There is no curative treatment, but the majority of the physical problems can be treated symptomatically.

Children with Kabuki syndrome usually learn at a slower rate than normal. Special educational input can help them achieve their full potential.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
In the majority of children with Kabuki syndrome, the KMT2D or KDM6A gene change is a new event (sporadic) with neither parent carrying the mutation. The recurrence risk for parents in such sporadic cases is extremely low. However, an individual with Kabuki syndrome will have a 50 per cent chance of passing the mutation to their children in every pregnancy. The effect of the mutation depends on the causative gene. If Kabuki syndrome in the individual is due to a KMT2D mutation (commoner cause) then the child who inherits the genetic change will be affected with the condition. On the other hand, if Kabuki syndrome is due to a mutation in the X-linked KDM6A gene, then the effect will depend on the gender of the child who inherits the mutation. Males are usually more severely affected with KDM6A mutation than girls. Some girls with KDM6A mutation may hardly show any problems.

Prenatal diagnosis
In families where the risk is high and where a gene change has been identified, prenatal diagnosis is now possible.

Is there support for people affected by Kabuki Syndrome and their families?

If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service.

We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.

We’ve listed some support groups below and you can also meet other parents online in our closed Facebook group.

Kabuki UK

Email: Via website
Website: kabukiuk.org.uk

Kabuki UK is a Registered Charity in England and Wales No. 1150972. It provides information and support to families affected by Kabuki Syndrome. The Charity raises awareness of the syndrome, provides advice to newly-diagnosed families and organises events that enable families all over the UK to get together. 

Group details last reviewed November 2020.

Credits

Last reviewed November 2020 by Dr Siddharth Banka, Consultant Clinical Geneticist, Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.