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Kabuki Syndrome

Kabuki syndrome is a rare, congenital disorder characterized by distinctive facial features, growth delays, mild-to-moderate intellectual disability, skeletal abnormalities and short stature. The syndrome’s true incidence rate is unknown, as many people are not diagnosed properly, but is estimated to be 1 in 32,000 individuals.

The disorder affects males and females, and can affect different organs and cause a variety of problems that our team is able to treat and address, including:

  • Growth deficiency
  • Feeding difficulties
  • Low muscle tone in early years
  • Seizures
  • Hearing issues
  • Cardiovascular abnormalities
  • Orthopedic problems

Signs and Symptoms of Kabuki Syndrome

Children with Kabuki syndrome have a distinctive facial appearance that could be present at birith, which includes:

  • Abnormally long openings between the eyelids
  • Lower eyelids that are turned outward
  • Prominent eyelashes
  • Arched eyebrows
  • A broad nose with a flattened or depressed tip
  • Large, misshaped ears

The distinctive facial appearance associated with Kabuki syndrome develops slowly over several years. Additional facial features include a bluish tinge to the whites of the eyes, drooping of the upper eyelid, misaligned eyes, a highly arched roof of the mouth or a cleft palate, depressions involving the inside of the lower lips, and an abnormally small jaw.

Treatment of Kabuki Syndrome

There is no specific treatment for Kabuki syndrome. Instead, treatment is applied to ameliorate specific symptoms in each individual. Treatment may require the coordinated efforts of a team of specialists. Early intervention with education and support services, as well as physical and occupational therapy for improving tone, are critical to ensure that children with Kabuki syndrome reach their potential.

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