Kabuki Syndrome

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Kabuki syndrome (also previously known as kabuki makeup syndrome, KMS, or Niikawa-Kuroki Syndrome) is a pediatric congenital disorder of genetic origin.

It affects multiple parts of the body with varying symptoms and severity, although the most common is the characteristic facial appearance. It is quite rare, affecting roughly one in 32,000 births.

It was first identified and described in 1981 by two Japanese groups, led by scientists Norio Niikawa and Yoshikazu Kuroki. It is named Kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form.

Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals. Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose, and a downward slant to the mouth.

Other common symptoms are skeletal abnormalities, short stature, heart defects, feeding difficulties and a failure to thrive, vision and hearing difficulties, weak muscle tone (hypotonia), small head size (microencephaly), and frequent infections.

Mild to moderate intellectual disability and mild to severe developmental delay are often associated with Kabuki syndrome.

Infants and young children often experience difficulties relating to hypotonia, feeding issues/failure to thrive, infections, surgical repair of heart and palate defects and developmental delays.

Young children with Kabuki syndrome benefit from early intervention services. School age children tend to have less medical issues requiring hospitalization, though frequent infections, hearing loss and feeding issues occur.

In addition, intellectual impairment, difficulty with visuospatial tasks and maintaining attention usually require an IEP (individualized education plan) if the child attends public school.

Older children and adults report difficulties with anxiety.