Wikipedia Precis

This revision: 26th April 2013 .
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Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome, is a pediatric congenital disorder of suspected genetic origin [1][2] with multiple congenital anomalies and intellectual disabilities. It is quite rare, affecting roughly one in 32,000 births.[1]

There is a wide range of congenital problems associated with Kabuki syndrome with large differences between affected individuals. Some of the common problems are heart defects (30%), urinary tract anomalies, hearing loss (50%), hypotonia, and postnatal growth deficiency (83%). Other characteristics include skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns.[3] They often suffer from recurrent ear infections in infancy.

In terms of development, mild to moderate intellectual disability is a common feature, seen in 92% of patients.

Also, children with Kabuki syndrome often have distinctive behavioural features. For example, 50% are described as unusually sociable, 30% as engaging in only minimal interaction with others, 74% as liking routine and 87% as having a happy disposition.

A few have normal intelligence, most of whom have learning difficulties such as struggling with fine motor, speech skills, and memory.

Useful Links

Kabuki Syndrome Network

The KSN is an online support organisation based in the Netherlands but with an international focus.

CAF - Kabuki Syndrome

Contact a Family is a UK charity which supports families of children with rare disorders

OMIM Reference

Reference pages from OMIM on Kabuki Syndrome includes links to mainly clinical papers.


An Australian support site for those affected by Kabuki Syndrome. A developing site with useful information including personal stories and case studies.

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