Kabuki make-up syndrome: a review.

TitleKabuki make-up syndrome: a review.
Publication TypeJournal Article
Year of Publication2003
AuthorsMatsumoto N, Niikawa N
JournalAmerican journal of medical genetics. Part C, Seminars in medical genetics
Volume117C
Issue1
Pagination57-65
Date Published2003 Feb 15
Abstract

Kabuki make-up syndrome (KMS, OMIM 147920) is an MCA/MR syndrome of unknown cause. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. Approximately more than 350 cases have been reported from all over the world. Besides these five cardinali manifestations, joint laxity (74%), dental abnormalities (68%), and susceptibility to infections including recurrent otitisi media (63%) were well recognized as other frequent features. A variety of viscerali anomalies such as cardiovascular anomalies (42%), renali and/or urinary tract anomalies (28%), biliaryi atresiai, diaphragmatic herniai, and anorectal anomalyi 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 palatei, known as a feature of van der Woude syndromei. 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 genei(s) are known. Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied.

Citation Key12561059