How to cite this article: Toriello HV. 2009. Are the oral-facial-digital syndromes ciliopathies? Am J Med Genet Part A 149A:1089–1095.
Are the oral-facial-digital syndromes ciliopathies?†
Version of Record online: 24 APR 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 5, pages 1089–1095, May 2009
How to Cite
Toriello, H. V. (2009), Are the oral-facial-digital syndromes ciliopathies?. Am. J. Med. Genet., 149A: 1089–1095. doi: 10.1002/ajmg.a.32799
- Issue online: 24 APR 2009
- Version of Record online: 24 APR 2009
- Manuscript Accepted: 11 FEB 2009
- Manuscript Received: 19 NOV 2008
- multiple anomaly syndrome;
The first oral-facial-digital syndrome was described in 1941 by Mohr, followed by a report by Papillon-Léage and Psaume [Papillon-Léage and Psaume (1954); Rev Stomatol (Paris) 55:209–227]. Ironically, these became known as oral-facial-digital syndrome (OFDS) II and I, respectively. Since then, numerous other examples of OFDS have been published, and current classification systems include up to 13 different types of OFDS. Other than for OFDS I, the causative gene defects for these conditions are unknown. Recently however the finding that primary ciliary defects can cause multiple anomaly syndromes that phenotypically overlap with the OFDS suggests that many, if not all of the OFDS could be caused by mutations in ciliary proteins. This review presents the evidence for suggesting that the search for causative genes should focus on those that are related to ciliary structure and function. © 2009 Wiley-Liss, Inc.