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Approximately more than 350 cases have been reported from all over the world. Besides these five cardinal manifestations, joint laxity (74%), dental abnormalities (68%), and susceptibility to infections including recurrent otitis media (63%) were well recognized as other frequent features. A variety of visceral anomalies such as caidiovascular anomalies (42%), renal and\/or urinary tract anomalies (28%), biliary atresia, diaphragmatic hernia, and anorectal anomaly were also reported. Some patients were said to have normal intelligence (16%) and normal heights, suggesting that they may have reproductive fitness to have their children. At least eight patients had lower lip pits with or without cleft palate, known as a feature of van der Woude syndrome. There have been 13 chromosomal abnormalities associated with KMS. However, no common abnormalities or breakpoints that possibly contribute to positional cloning of the putative KMS gene(s) are known. Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.10020","type":"journal-article","created":{"date-parts":[[2003,1,31]],"date-time":"2003-01-31T14:48:19Z","timestamp":1044024499000},"page":"57-65","source":"Crossref","is-referenced-by-count":158,"title":["Kabuki make\u2010up syndrome: A 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