Origin of the Name

The syndrome was named “Kabuki” after the traditional Japanese theater, where Japanese doctors Dr. Niikawa and Dr. Kuroki in 1981 observed that the facial features of affected children resembled the makeup used by Kabuki performers.

Distinctive Features

• Wide eyes
• Arched upper eyebrows
• Increased length of eyelid folds
• Long, thick eyelashes
• Intellectual disability of varying degrees

Causes

• The exact cause is still unknown, but it is believed to be associated with a defect in chromosome 8.
• Occurrence rate: 1 case per 23,000 live births
• Affects males and females equally

Diagnosis

• No specific test exists for diagnosis; chromosome analysis is not definitive.
• Diagnosis relies on the expertise of a genetic specialist.
• 4 out of 5 major signs must be present:
  1. Increased eyelid fissure length
  2. Arched eyebrows
  3. Long eyelashes
  4. Prominent or malformed ears
  5. Depressed nasal tip

Physical Abnormalities

• Short fingers and bones
• Curved little fingers
• Spinal deformities which may lead to scoliosis
• Postnatal growth retardation and short stature
• Incomplete eyelid closure
• Additional non-diagnostic features:
  • General hypotonia and hyperflexible joints
  • Feeding difficulties and growth delays
  • Anemia and weakened immunity with frequent ear infections
  • Hearing impairment
  • Congenital defects in the heart, kidneys, and urinary tract
  • Small mouth and jaw, dental anomalies, high-arched palate
  • Sudden weight gain during puberty
• Behavioral and psychological traits: generally happy and social, but prefer routine and may experience epilepsy

Treatment

• Early intervention: to prevent feeding and growth issues
• Family support
• Occupational and physical therapy
• Management of associated symptoms:
  • Hearing improvement
  • Epilepsy treatment with medication
  • Surgical intervention for heart or kidney abnormalities if needed
• Rehabilitation therapy:
  • Sensory room training to stimulate the brain and senses
  • Development of social skills and interaction with others
  • Integration with typically developing peers
  • Speech and language therapy:
    • Managing drooling and swallowing issues
    • Enhancing cognitive language skills and speech

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