Kabuki make-up syndrome: A review


  • Naomichi Matsumoto,

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    • Naomichi Matsumoto, M.D., Ph.D., is Associate Professor at the Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan. He has been involved in positional cloning of congenital anomaly syndromes. His current main scientific interests include molecular genetics and pathophysiology of Sotos syndrome.

  • Norio Niikawa

    Corresponding author
    • Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.
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    • Norio Niikawa, M.D., Ph.D., is Professor of Human Genetics, Nagasaki University School of Medicine, and Director of Gene Research Center of the university, Nagasaki, Japan. His main interest in research is medical genomics, especially in the field of congenital anomaly syndromes.


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 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. © 2003 Wiley-Liss, Inc.