Kabuki syndrome is a rare congenital anomaly characterized by defects craniofacial, intellectual and cardiac. Kabuki syndrome is a rare disease described by kuroki and niikawa in japanese population in 1981. It has a clinical diagnosis and its main phenotypic characteristic observed is the facial dysmorphia, very similar to the makeup used by the japanese theater actors kabuki. Kabuki syndrome is caused by mutations in the kmt2d gene also known as mll2 or the kdm6a gene. All structured data from the file and property namespaces is available under the creative commons cc0 license. The 4yearold italian child with a rash in the case report of fernanda falcini and colleagues july 3, p 401 probably has blaus syndrome and not sarcoidosis. Pubmed is a searchable database of medical literature and lists journal articles that discuss kabuki syndrome. Kabuki syndrome genetic and rare diseases information. There are over 400 cases over the world and 5 cases described in colombian population. Sep 01, 2011 because the phenotype of kabuki syndrome is broad, individuals with the distinctive findings described in suggestive findings are likely to be diagnosed using genetargeted testing see option 1, whereas those in whom the diagnosis of kabuki syndrome has not been considered are more likely to be diagnosed using genomic testing see option 2. Files are available under licenses specified on their description page. Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. Click on the link to view a sample search on this topic.
A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. This gene provides instructions for making an enzyme called lysinespecific methyltransferase 2d that is found in many organs and tissues of the body. Kabuki syndrome nord national organization for rare disorders. Kabuki syndrome is one of the mendelian disorders of epigenetic machinery.