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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.

Synonyms: Kabuki make-up syndrome Niikawa-Kuroki syndrome

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Term information

database cross reference
hasDbXref

ICD-10:Q87.0

MedDRA:10063935

OMIM:300867

UMLS:C0796004

MeSH:C537705

OMIM:147920

notation

ORPHA:2322