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Kabuki Syndrome
Monday, 18 August 2003
Sunday, 11 January 2004

What

Kabuki syndrome is a pattern of physical and developmental problems. The condition was named Kabuki syndrome, because the doctors who first discovered it thought that the facial features of individuals with the syndrome looked like characters in a type of Japanese theater called Kabuki Theater. Individuals with this syndrome have a distinct facial appearance with long eye openings that slant upwards, and arched eyebrows. The corners of the mouth turn downward, the ears are prominent, and there is an indentation below the lower lip. Even though they may have been normal size at birth, children with Kabuki syndrome grow slowly and are more susceptible to infections.

Who

Kabuki syndrome occurs sporadically, and usually there are no other family members who are affected by the disease. Although the cause of the syndrome still remains unknown, it is thought to be most likely the result of a missing piece of chromosome. Chromosomes are structures that contain genes, and genes control the development and function of every cell in our bodies. Kabuki syndrome is found equally in males and females.

Signs and Symptoms

The signs and symptoms are mainly characterized by the facial features and the body formations, all of which may vary among individuals.

  • The facial features may include long fissures of the eyelids, droopiness of the upper eyelids with eversion of the lateral lower eyelids, accentuated by long eyelashes and arched eyebrows. Hence, the appearance of the classical Kabuki dancer. The nose tip is bulbous and/or flat; the ears are large and malformed; the teeth are wide-spaced and irregular; and there may be a cleft lip and/or cleft palate or lip pits. Often the skull is small sized. The muscular findings are weak muscles (hypotonia), with loose joints, and the skeletal findings are dislocations of the kneecap or hip , and shortness of the 5th finger and toes, deviation of fingers and deformed vertebrae or ribs. Scoliosis (lateral curvature of the spine) is common. Other findings include:
  • Postnatal growth retardation
  • Developmental delay (mild to moderate)
  • Congenital heart defects
  • Susceptibility to infections
  • Kidney or urinary tract anomalies
  • Persistent fetal fingertip pads
  • Feeding difficulties * Seizures
  • Early breast development in females
  • Recurrent ear infections
  • Frequent respiratory infections
  • Sensory integration dysfunction (tactile defensiveness)
  • Sleep disturbances
  • Hearing loss
  • Blue sclerae (bluish color of the whites of the eyes)
  • Eye problems

Diagnosis

The diagnosis of Kabuki syndrome is mainly a clinical one, based on the distinctive facial features. Diagnosis may be difficult during infancy, however because the features of individuals with Kabuki syndrome usually evolve over time.

Treatment

There is no cure for Kabuki syndrome, so treatment is based on managing the symptoms as they present.

Prognosis

The lifespan of individuals with Kabuki syndrome is usually normal, and the abilities of children with Kabuki syndrome vary greatly. Some children are able to follow a regular education curriculum, while others may need special attention.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Facts About Kabuki
A great website with information about the syndrome and links to support networks and other informational sites.

Family Village
A well organized website with information about the syndrome as well as links to support networks.

Google Search for Kabuki Syndrome

References and Sources

Current Pediatric Diagnosis and Treatment, 16th ed. (2003) 33. Genetics and Dysmorphology- Ellen Roy Elias et.el. Principles of Genetics, online.statref.com Disorder Zone Archives, www.specialchild.com/archives/dz-024.html Overview of Kabuki Syndrome, /www.geocities.com?Heartland/Fields/2978/kabuki.html