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  • Title: Review: Facial endophenotypes in non-syndromic orofacial clefting.
    Author: Roosenboom J, Claes P, Devriendt K, Dormaar T, Peeters H, Saey I, Schoenaers J, Vander Poorten V, Verdonck A, Hens G.
    Journal: B-ENT; 2015; 11(3):173-82. PubMed ID: 26601549.
    Abstract:
    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.
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