Kabuki syndrome

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Synonyms: Kabuki make-up syndrome | Niikawa-Kuroki syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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