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For healthcare providers: Additional clinical information
Kabuki syndrome (KS) consists of differences in facial features and skeleton, persistence of fetal fingertip pads, mild to moderate intellectual disability, and growth deficiency. The condition was first named for the appearance of the facial features, especially the eyes, thought to resemble the make-up used in Japanese Kabuki theatre.
Learn more about the physical characteristics and/or symptoms of Kabuki Syndrome.
This information was last updated in May 2020.