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
