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Kabuki Syndrome

  • Kabuki syndrome is a rare congenital disorder, meaning that children are born with the condition. Children with Kabuki syndrome usually have distinctive facial features and mild to moderate mental impairment.

    • Typical facial features include arched eyebrows, elongated and wide-set eyes, thick eyelashes, flat nasal tip and large or cupped ears
    • Estimated to occur in 1 out of every 32,000 births
    • Affects males and females equally
    • Believed to be under-diagnosed because there is no diagnostic test and many doctors are unfamiliar with the disorder.

    Kabuki syndrome is believed to be an inherited disorder but doctors have not yet identified a specific chromosomal abnormality that is responsible for causing the condition.

    Genetics
    Boston Children's Hospital

    300 Longwood Avenue
    Boston MA 02115
    857-218-4637

  • What causes Kabuki syndrome?

    Kabuki syndrome is believed to be an inherited disorder but doctors have not yet identified a specific chromosomal abnormality that is responsible for causing the condition.

    What are the symptoms and physical traits associated with Kabuki syndrome?

    Features generally include some of the following physical features, although no child will have them all:

    • Arched eyebrows, elongated and wide-set eyes, thick eyelashes, flat nasal tip and large ears
    • Bone abnormalities: short fingers (especially the fifth finger), mild webbing between the fingers, irregularly shaped vertebrae, mild spina bifida and/or scoliosis
    • Poor muscle tone (hypotonia)
    • Very flexible joints
    • Problems feeding
    • Frequent infections, including urinary tract infections and respiratory and/or ear infections during infancy and early childhood
    • Hearing problems/ hearing loss
    • Congenital heart defects
    • Endocrine problems, such as hypoglycemia (low blood sugar), growth hormone deficiency, hypothyroidism or diabetes
    • Kidney and urinary tract problems
    • Hernia
    • Small mouth or jaw, or cleft or high arched palate
    • Missing teeth, unusually shaped teeth or misaligned teeth
    • Early breast development and/or early puberty (girls)
    • Seizures
    • Diarrhea and/or constipation

    What is the prognosis of a child with Kabuki syndrome?

    People with Kabuki syndrome do not have a shortened lifespan. Medication and medical care can help children with heart, kidney and intestinal abnormalities to resolve these issues over time.

  • There is no test that can diagnose Kabuki syndrome and it is generally not diagnosed in newborn babies. Usually, a geneticist will make the diagnosis when a child is a toddler or in her early childhood based on a thorough medical history, level of intellectual ability and physical characteristics, including certain facial features and skeletal and skin abnormalities.

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

    • Early intervention: education and support services available to children with developmental delays from birth to school age, and their families
    • Physical and occupational therapy: to strengthen muscles and joints and develop coordination and improve fine motor skills
    • Speech therapy: can help address some of the symptoms of the condition, such as problems with the palate, hearing loss and dental problems
    • Sensory integration therapy: can help children with sensory problems such as texture sensitivies
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