Kabuki syndrome
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Kabuki syndrome, also previously known as Kabuki makeup syndrome, is a very rare pediatric congenital disorder, so named because of the facial resemblance of affected individuals with white Kabuki makeup.
There is a wide range of congenital problems associated with Kabuki syndrome with large differences between affected individuals. Some of the common problems are heart defects (30%), urinary tract anomalies, hearing loss (50%), hypotonia, low to moderate intellectual disability (92%) and postnatal growth deficiency (83%).
Their is no indication that the life expectancy is shortened. Most medical issues are resolved with medical intervention. The fact that there are relatively few adults know with this syndrome, is probably related to the fact that the syndrome was only discovered in 1980 in Japan and around 1990 in Europe and America.
External link
- Website on Kabuki syndrome (http://www.kabukisyndrome.com/)
- Online Mendian In heritance in Man: Kabuki Syndrome (http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147920)