Kabuki Syndrome

Definition

Kabuki syndrome is a pediatric congenital disorder of suspected genetic origin with multiple congenital anomalies and intellectual disabilities. It is very rare, affecting roughly one in every 32,000 individuals. It was discovered and described in 1981 by two Japanese groups, led by the scientists Niikawa and Kuroki. It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white Kabuki makeup, a Japanese traditional theatrical form.

Symptoms

At present diagnosis is based on the recognition of four (out of five) main characteristics, with the distinct facial features being imperative.

  • Facial features: long palpebral fissures with eversion of outer third, arched eyebrows with sparse outer half, prominent eyelashes, prominent and/or misshapen ears, and depressed nasal tip
  • Skeletal abnormalities: may include brachydactyly (shortness of fingers), brachymesophalangy (abnormal shortness of bone) and clindactyly (turning aside) of the fifth finger, and vertebral anomalies including scoliosis
  • Dermatoglyphic abnormalities: including persistent finger fetal pads
  • Intellectual disability (mild to moderate)
  • Postnatal short stature

Kabuki is a complex syndrome with many associated findings. Co-existing conditions support a diagnosis but are not, separately, considered cardinal traits. Here is a list of some of the more common traits.

  • Hypotonia
  • Hyperextensible joints
  • Feeding difficulties
  • Behavioral difficulties
  • Recurrent infections
  • Hearing impaired and/or inner ear malformations
  • Congenital heart defects
  • Renal (kidney) / urinary tract anomalies
  • Other organ anomalies (less common) – malrotation of colon, anal atresia (closure), diaphragm eventration or hernia
  • Small mouth, micrognathia (smallness of the jaws), cleft or high arched palate
  • Hypodontia (missing teeth), unusually shaped teeth, and misalignment
  • Sudden weight gain during puberty years
  • Early breast development and/or precocious (early) puberty
  • Immunological abnormalities – may include ITP (idiopathic thrombocytopenic purpura), hemolytic anemia, and growth hormone deficiency
  • Seizures