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Features of Kabuki Syndrome

Features of Kabuki Syndrome

  • Typical facial features in KS
    • Larger appearing eyes due to a longer lid opening
    • Outer part of lower eyelid turned inside out
    • Arched and broad eyebrows
    • Large, prominent or cupped ears
  • Minor skeletal differences
    • Spinal column
      • Butterfly vertebrae
      • Scoliosis
    • Short fingers and toes
    • Curved 5th finger
  • Persistence of fetal fingertip pads
    • Usually, these finger pads normally occur in human fetuses but disappear before birth.
  •  Mild to moderate intellectual disability
  • Growth deficiency (35-81%)
    • Small head size which may/may not accompany short stature.

Additional findings

  • Congenital heart defects (40-50%)
  • Genitourinary differences (25%)
    • Abnormal kidneys or urinary tract
  • Cleft lip and/or palate (33%)
  • Gastrointestinal problems
    • Anal atresia (absent or narrow opening in the anus
    • Reflux
    • Diarrhea
    • Constipation
    • Feeding difficulties
  • Eye findings
    • Eye lid droops
    • Crossed eyes
    • Coloboma (an abnormal hole present from birth in one of the structure of the eye)
    • Abnormal blue color of the eye lining
    • Abnormally small eye(s)
    • Dry eyes related to sleeping with eyes partially open
  • Dental
    • Widely spaced teeth
    • Missing teeth
    • Irregular shape and/or misaligned teeth
    • Oral sensitivity which may make dental care difficult
  • Skin and nails
    • Hyperelastic skin
    • Hands feel soft
    • Nails: absent, incomplete, or fragile
    • Hair differences (i.e. texture)
  • Infections and autoimmune disorders more likely
  • Seizures (10-39%)
    • Usually controlled with medicine
  • Endocrinology abnormalities
    • Premature breast development
  • Small mouth, small jaw
  • Hearing loss 40%-82% (conductive) and ear pits
  • Low muscle tone25-89%) and loose joints (50-75%)
  • Autism or autistic-like features