" /> Kabuki syndrome 1 - CISMeF





Preferred Label : Kabuki syndrome 1;

Symbol : KABUK1;

CISMeF acronym : KABUK1; KMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Niikawa-kuroki syndrome; KMS; Kabuki make-up syndrome; Kabuki syndrome;

Description : Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). - Genetic Heterogeneity Kabuki syndrome-2 (300867) is caused by mutation in the KDM6A gene (300128) on chromosome Xp11.3.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myeloid/lymphoid or mixed lineage leukemia 2 gene (MLL2, 602113.0001);

Prefixed ID : #147920;

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30/07/2025


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