Currently Contact a Family is actively involved in facilitating the formation of a UK support group. If you would like to know more about this, please contact the Rare Disorders Team on Tel: 020 7608 8700 or e-mail: specific-cond@cafamily.org.uk . We look forward to hearing from you.

Kabuki syndrome: Kabuki Make-Up syndrome

Kabuki syndrome is a pattern of physical and developmental problems which was first noted in children in Japan. The doctors who first wrote about this condition felt that the facial features of the affected children looked like the characters in a type of Japanese theatre called Kabuki theatre, hence they named the condition Kabuki syndrome. The syndrome has now been identified worldwide.

Children and adults with Kabuki syndrome have a distinctive facial appearance with long eye openings which may slant upwards. The eyebrows are usually arched. The ears may appear prominent and the corners of the mouth tend to turn downwards. There is a little indentation below the lower lip.

Some children with Kabuki syndrome are loose jointed and almost all have rather prominent finger pads. Other physical features including heart, kidney and bowel problems have been found in some, but certainly not all, of the children.

Most children with Kabuki syndrome grow slowly even though many have been of normal size at birth. Some children have a head size which is below the normal range.

Some children are susceptible to infections when young, especially ear infections. In some girls early breast development may be noted.

Children with Kabuki syndrome usually learn at a slower rate than normal but they do have the ability to continue learning and make progress. Help can be given to encourage a child's progress and special education can help them achieve their own potential.

Inheritance patterns
Sporadic incidence but there may be an underlying genetic cause. The cause of Kabuki syndrome is not yet known but it is most likely to be due to a tiny piece of one chromosome missing.

Prenatal diagnosis
None.

Psychological and behavioural characteristics

Kabuki syndrome is associated with the presence of learning disability, typically in the mild to moderate range. That said, the degree of learning disability varies considerably, and some individuals may be of normal general intelligence.

Oromotor co-ordination may be impaired and feeding difficulties may occur in children with or without cleft palates. Some speech articulation errors can resolve over time but other anomalies persist.

Early speech and language delay is very common and some language-related difficulties usually persist. These are evident even in cases of apparently age-appropriate general cognitive functioning, and are not necessarily only a result of structural anomalies of the mouth and throat. Other areas of language understanding and expression may be affected.

The syndrome has not been closely linked to a distinctive pattern or profile of behaviours. Many children may be very expressive and sociable, whereas others may display "autistic-like" difficulties in their social communication, interactions with their peers, repetitive behaviours, and sensory interests.

There is relatively little information about the long term outcome for individuals with Kabuki syndrome. It seems that this may vary widely. That said, life expectancy may be normal if potential medical complications, such as heart or kidney defects, are treated in childhood.

Medical text written October 1999 by Professor Dian Donnai. Last updated May 2004 by Professor Dian Donnai, Consultant Clinical Geneticist, St Mary's Hospital, Manchester, UK. Psychological and behavioural characteristics information last updated March 2004 by Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK and Dr A Kuczynski, Child Clinical Psychologist, South London & Maudsley NHS Trust, London, UK.

The Kabuki syndrome Support Group is currently in abeyance. Families can use Contact a Family's Freephone Helpline for advice, information and, where possible, links to other families. Contact a Family's web-based linking service Making Contact.org can be accessed at http://www.makingcontact.org