Kabuki syndrome [Supplementary Concept]

A congenital syndrome characterized by neurodevelopmental dysfunction, DWARFISM, a FACIES with long palpebral fissures and eversion of the lateral third of the lower eyelids, and other anatomical abnormalities. A heterozygous mutation in the KMT2D gene is associated with Kabuki Syndrome-1 (OMIM: 147920). Mutations in the KDM6A gene have been associated with Kabuki Syndrome-2 (OMIM: 300867).

Date introduced: August 25, 2010

MeSH Unique ID: C537705

Heading Mapped to:

• Abnormalities, Multiple
• Face/abnormalities
• Hematologic Diseases
• Vestibular Diseases

Entry Terms:

• Kabuki Makeup Syndrome
• Kabuki Make-Up Syndrome
• Kabuki make up syndrome
• Niikawa-Kuroki syndrome