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Genetics of cleft lip and palate : a review

Zainul Ahmad Rajion1, Zilfalil Alwi

  • 1School of Dental Sciences.

The Malaysian Journal of Medical Sciences : MJMS
|May 18, 2012
PubMed

Insights

Non-syndromic cleft lip with or without cleft palate (CL/P) are common birth defects. The genetic causes of CL/P remain complex and controversial, despite numerous research efforts.

Area of Science:

  • Craniofacial development and genetics

Background:

  • Orofacial clefts, specifically non-syndromic cleft lip with or without cleft palate (CL/P), are prevalent craniofacial deformities affecting 1 in 700-1000 newborns globally.
  • Understanding the etiology of CL/P is crucial for prediction and prevention strategies.

Purpose of the Study:

  • To review current understanding of the genetic basis of non-syndromic cleft lip with or without cleft palate (CL/P).
  • To highlight the challenges and complexities in identifying causative genetic factors.

Main Methods:

  • Review of various genetic approaches, including genome-wide association studies, candidate gene studies, and linkage analysis.
  • Analysis of published literature on the genetic etiology of CL/P.

Main Results:

  • Genetic studies have yielded inconclusive or contradictory results, suggesting etiological heterogeneity.
  • Multiple genes are likely involved in the complex genetic architecture of CL/P.
  • Several genes have been implicated, but definitive causative factors remain elusive.

Conclusions:

  • The genetic basis of CL/P is complex and not fully understood.
  • Ongoing research is necessary to resolve the controversies surrounding the genetic etiology of CL/P.

Keywords:
Orofacial cleftscandidate genesgenetics

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