title: Review: Facial endophenotypes in non-syndromic orofacial clefting.
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.
authors.forename: J
authors.initials: J
authors.lastname: Roosenboom
authors.forename: P
authors.initials: P
authors.lastname: Claes
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: T
authors.initials: T
authors.lastname: Dormaar
authors.forename: H
authors.initials: H
authors.lastname: Peeters
authors.forename: I
authors.initials: I
authors.lastname: Saey
authors.forename: J
authors.initials: J
authors.lastname: Schoenaers
authors.forename: V
authors.initials: V
authors.lastname: Vander Poorten
authors.forename: A
authors.initials: A
authors.lastname: Verdonck
authors.forename: G
authors.initials: G
authors.lastname: Hens
mesh_terms: D002508:Cephalometry; D002971:Cleft Lip / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014943:Global Health; D006801:Humans; D009017:Morbidity / Q000639:trends; D010641:Phenotype