Facial Summary

Kabuki syndrome acquired its name because the facial features of the children resembled the make-up of the actors in the traditional Kabuki theatre. Kabuki syndrome is often unrecognized in the newborn and it may take several years for the features to become obvious in the child.

VoldsethThe facial characteristcs of Kabuki include:

  • long palpebral fissuresi
  • lower palpebral eversioni
  • arched eyebrows with sparse outer laterali half
  • long eyelashes
  • blue sclerae
  • ptosisi
  • depressed nasali tip
  • prominent broad philtrumi
  • cleft lip/palate or arched palate
  • dysmorphic ears
  • preauricular pits
  • abnormal dentition
  • Most noteable in children with Kabuki syndrome are the large eyes, long and thick eyelashes, arched eyebrows, flat nasal tip and prominent ears. Outer lower lid eversion can contribute to sleeping with eyes partially open.

    Oculari conditions that occur more commonly in KS than the general population are blue sclerae, strabismusi, colobomai and ptosis. Less common conditions can include nystagmusi, Peters’ anomalyi, and Marcus Gunn’s phenomenon.

    Ears are frequently large, cupped, and incompletely formed. Hearing loss has usually been attributed to both repeated ear infections and sensorineural problems.

    Cleft palatei/lip or high arched palates are commonly found. A thin upper lip has also been noted. Teeth are often wide spaced, irregularly shaped and misaligned. Hypodontia is common, in particular missing upper incisorsi.

    Delay in speech and language acquisition is very common, exacerbated by craniofacial anomalies, hypotonia, and poor coordination.