Review: Facial endophenotypes in non-syndromic orofacial clefting
J. Roosenboom4,7P. Claes , K.1,4,6iendt , T. Dormaar , H. Peeters , I. Saey , J. Schoenaers , V. Vander Poorten , A. Verdonck and G. Hens
Department of Neurosciences, Experimental Otorhinolaryngology, KU Leuven, Herestraat 49, Box 721, 3000 Leuven, Belgium; Medical Image Computing, ESAT/PSI, Department of Electrical Engineering, KU Leuven, Medical Imaging Research Center, KU Leuven & UZ Leuven, iMinds-KU Leuven Future Health Department, Herestraat 49, Box 7003, 3000 Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, Box 602, 3000 Leuven, Belgium; Multidisciplinary Cleft Lip and Palate Team, UZ Leuven, Kapucijnenvoer 33, 3000 Leuven, Belgium; Department of Maxillo-Facial Surgery, University Hospitals Leuven, Belgium; Department of Otorhinolaryngology, Head and Neck Surgery, UZ Leuven, Belgium, Kapucijnenvoer 33, 3000 Leuven, Belgium; 7Department of Oral Health Sciences, KU Leuven, Kapucijnenvoer 7, Box 7001, 3000 Leuven, Belgium
Endophenotype; cleft; lip; palate; genetics; orofacial
173 - 182
Review: Facial endophenotypes in non-syndromic orofacial clefting. Cleft lip and/or palate (CL/P) is one of the most frequent congenital malformations, with a frequency of 1 in 700 live births. Non-syndromic orofacial clefting is a multifactorial condition, with both a genetic and an environmental component. Although numerous studies have been published addressing the genetic etiology of CL/P, this factor remains incompletely understood. A promising approach to find candidate gene regions for CL/P is the investigation of endophenotypes, which are characteristics associated with a certain condition and that can be an expression of underlying susceptibility genes. This review focuses on the known facial endophenotypes in CL/P (such as distortion of the orbicularis oris muscle and facial features in non-affected relatives of patients with CL/P) and genes that could be associated with these characteristics. Possibilities for further endophenotype-related studies in the field of non-syndromic CL/P are discussed.
Vol. 11, 2015, 3rd trimester

Review: Facial endophenotypes in non-syndromic orofacial clefting