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Kabuki syndrome

Codes

IDC-10: Q87.8

ORPHA: 2322

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
3:100,000 live births.
Cause
Genetic, most often new mutation.
General symptoms
Mild to moderate developmental delay, growth retardation, skeletal anomalies, chubby finger pads and various malformations of bodily organs, such as the heart and urinary tract.
Synonyms
Kabuki Makeup Syndrome, Niikawa-Kuroki Syndrome

Orofacial/odontological symptoms

There are facial features that are characteristic for the diagnosis. Facial expression is often flattened and speech is unclear. Difficulties in the ability to suck, chew and swallow, as well as gastroesophageal reflux are common. Many have a thin and narrow upper lip and some have pits or raised blisters on the lower lip. High palate is common, as is cleft palate; cleft lip and jaw also occur. Deformities in tooth shape and number are noted in most cases; usually it is the front teeth in the upper or lower jaw that are missing. The teeth may be conical or tapered (screwdriver form), meaning that they are widely spaced. Tooth eruption may be delayed.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • In cases of defective palate, a specialist team will be needed for follow up and treatment.
  • When treating medically compromised patients always contact their doctor for medical advice (heart diseases etc).
  • Training in oral motor skills and extra stimulation in cases of eating disorders are often required.

Sources

Rare diseases
Updated: 0001-01-01 00:00