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Kabuki syndrome

Disease definition

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

ORPHA:2322

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

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.