What is Kabuki Syndrome?

What is Kabuki Syndrome?

KS is a very rare paediatric congenital (ie. present from birth) condition which consists of multiple physical and developmental problems, estimated at 1 in 32,000 births
  • Facial features: Long eyelids (palpebral fissures) with turning-out of the outer third of the lower eyelid, arched eyebrows with a thin outer half, prominent eyelashes, prominent and/or misshapen ears, and flattened nasal tip.
  • Skeletal abnormalities: May include short fingers (brachydactyly), abnormally short bones (brachymesophalangy ) and turning in of the fifth finger (clinodactyly), as well as spinal anomalies including scoliosis (bending of the spine).
  • Dermatoglyphic (palm and sole) abnormalities: Including persistent fingerpads.
  • Intellectual disability: Usually mild to moderate (in 92% of people with KS).
  • Postnatal short stature: This means babies can often grow reasonably well inside the womb, but only grow very slowly after birth (growth restriction).
Kabuki is a complex syndrome with many associated findings. Co-existing conditions support a diagnosis but are not absolutely necessary to be present. Here is a list of some of the more common traits.
  • Floppiness/inability to hold own weight or sit up (hypotonia)
  • Excessively flexible joints (hyperlax joints)
  • Feeding difficulties
  • Behavioural difficulties
  • Recurrent infections (often ear infections)
  • Hearing impaired and/or inner ear malformations
  • Congenital heart defects
  • Kidney/urinary tract abnormalities
  • Other organ abnormalities (less common) – twisting of the large bowel (malrotation of the colon), malformed anus, abnormal relaxation of the diaphragm (eventration) or hernias
  • Small mouth, small jaw (micrognathia), cleft or high arched palate
  • Missing teeth, unusually shaped teeth and misaligned teeth
  • Sudden weight gain during puberty years
  • Early breast development and/or precocious (early) puberty
  • Immunological abnormalities – may include low platelets causing a dark blotchy rash (ITP), haemolytic anaemia (where the red blood cells break themselves down) and growth hormone deficiency
  • Seizures