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.

Synonyms: Niikawa-Kuroki syndrome Kabuki make-up syndrome

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Term information

database cross reference
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ICD-10:Q87.0
MedDRA:10063935
OMIM:300867
OMIM:147920
UMLS:C0796004
MeSH:C537705

notation

ORPHA:2322

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