Kabuki Syndrome

Category:
Pediatric Congenital Disorder

Prevalence:
In The US: 1 in 32,000 annually

Also Called:
Kabuki Makeup Syndrome, KMS or Niikawa–Kuroki Syndrome

Resources:
Genetics Home Reference

WebMD

 

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Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese theater called Kabuki.

People with Kabuki syndrome have developmental delay and intellectual disability that range from mild to severe. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).

Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth fingers, or problems with the hip and knee joints. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched, and dental problems are common in affected individuals. People with Kabuki syndrome may also have fingerprints with unusual features and fleshy pads at the tips of the fingers. These prominent finger pads are called fetal finger pads because they normally occur in human fetuses; in most people they disappear before birth.

A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities, frequent ear infections (otitis media), hearing loss, and early puberty.

Kabuki Syndrome In The News

Former Skier and Life Turns Aspen Co-Founder Uses Camps to Empower Children with Medical Conditions

Read More    published: 07/30/2017

Kabuki Syndrome Genes KMT2D and KDM6A: Functional Analyses Demonstrate Critical Roles in Craniofacial, Heart and Brain Development

Read More    published: 05/11/2015

Histone Deacetylase Inhibition Rescues Structural and Functional Brain Deficits in a Mouse Model of Kabuki Syndrome

Read More    published: 05/14/2015

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