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Kabuki syndrome

Disease definition

A rare multiple congenital anomalies/neurodevelopmental disorder characterized by five major features: intellectual disability (typically mild to moderate), visceral malformations (frequently congenital heart defects), persistence of fetal fingertip pads, post-natal short stature, skeletal anomalies (brachymesophalangy, brachydactyly V, spinal column abnormalities and fifth digit clinodactyly) and specific facial features (arched and broad eyebrows, long palpebral fissures, eversion of the lower eyelid, large prominent, cupped ears, depressed nasal tip and short columella). Various additional features are frequently observed.


Classification level: Disorder
  • Synonym(s):
    • Kabuki make-up syndrome
    • Niikawa-Kuroki syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Antenatal, Infancy, Neonatal
  • ICD-10: Q87.0
  • ICD-11: LD2F.1Y
  • OMIM: 147920  300867
  • UMLS: C0796004
  • MeSH: C537705
  • GARD: 6810
  • MedDRA: 10063935

Detailed information

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Disease review articles


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