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Kabuki syndrome

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

Background

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.

Credits

Last reviewed August 2016 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 is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

What are the symptoms?

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?

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 it 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 it 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?

Kabuki UK

Email: via website
www.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 updated August 2016.

Talk to other families about your child's condition

Visit our online Kabuki syndrome group

Visit our online advice and support or read all about diagnosis.


You can also call us if you need information or advice on any aspect of caring for a disabled child. Monday to Friday, 9.30am to 5pm.


0808 808 3555 or helpline@contact.org.uk