Kabuki Syndrome

Also known as

  • Kabuki makeup syndrome
  • Niikawa-Kuroki syndrome.

Kabuki syndrome is a rare condition affecting many body systems. Those with the disorder typically have distinctive facial features, growth delays, varying degrees of intellectual disability, and short stature. A wide variety of additional symptoms can potentially occur.

Condition details

Distinctive facial features include; arched eyebrows, long eye lashes, wide eyes, large ears and a flat tip of the nose. Cleft lip and/or palate. Small jaw. Widely spaced teeth Frequent ear infections and hearing loss. Some have rapid, involuntary eye movements or eyes that do not look in the same direction. A small head, seizures and weak muscle tone can occur. Shorter than average height, abnormal side-to-side curvature of the spine (scoliosis), short fingers, or problems with the hip and knee joints. Heart, kidney and digestion problems. Developmental delay and intellectual disability ranging from mild to moderate/severe. Increased susceptibility to infections and auto-immune disorders. A wide variety of other health problems occur in some people with Kabuki syndrome.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Poor feeding Failure to thrive Growth deficiency Congenital heart defects
Child 4-10
Lay terms Clinical terms
  • Short stature for some chilren. Mild to moderate intellectual disability. Behavioural difficulties Early puberty

Affected genes identified to date

  • KDM6A
  • KMT2D

Inheritance patterns

Is X-linked Is Autosomal dominant

When Kabuki syndrome is caused by a genetic change in the KDM6A gene, it is inherited in an X-linked dominant pattern. About 6% of cases are due to a genetic change (mutation) in the KDM6A gene which is located on the X chromosome.

When Kabuki syndrome is caused by a genetic change in the KMT2D gene, it is inherited in an autosomal dominant pattern. Between 55% and 80% of cases of Kabuki syndrome are caused by a genetic change (mutation) in a gene called KMT2D (formally MLL2)

Are carriers affected?

No unaffected female carriers for X-linked Kabuki syndrome have been reported to date.

How many are affected?

1 in 32,000 - 60,000

Support groups and organisations

Kabuki UK
UK
Tel
Facebook

Known experts

Field of interest
Tel
Facebook
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