Review: Facial endophenotypes in non-syndromic orofacial clefting


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


Department of Oral Health Sciences, KU Leuven, Kapucijnenvoer 7, Box 7001, 3000 Leuven, Belgium

B-ENT 2015; 11: 173-182
Read: 694 Downloads: 558 Published: 04 February 2020

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.

EISSN 2684-4907