Review: Facial endophenotypes in non-syndromic orofacial clefting

B-ENT. 2015;11(3):173-82.

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.

Publication types

  • Review

MeSH terms

  • Cephalometry
  • Cleft Lip* / diagnosis
  • Cleft Lip* / epidemiology
  • Cleft Lip* / genetics
  • Cleft Palate* / diagnosis
  • Cleft Palate* / epidemiology
  • Cleft Palate* / genetics
  • Genetic Predisposition to Disease*
  • Global Health
  • Humans
  • Morbidity / trends
  • Phenotype