Kabuki Syndrome | Diagnosis & Treatment

How is Kabuki syndrome diagnosed?

While there are genetic tests for Kabuki syndrome, approximately 30 percent of children with Kabuki syndrome will not have a mutation in either gene known to cause the condition.

Doctors can also make a diagnosis based on a complete exam and certain facial features and skeletal and skin abnormalities.

Your child’s doctor may also order blood tests or chromosomal studies to rule out other conditions.

What are the treatment options for Kabuki syndrome?

Treatment for Kabuki syndrome depends on the specific problems your child has. It can involve medication or surgery. The following services can also help:

  • early intervention (EI) can offer education and support services to children with developmental delays from birth to school age
  • physical and occupational therapy
  • speech therapy
  • sensory integration therapy can help children with sensory problems such as texture sensitivities