Cleft lip and/or cleft palate

Definition:

Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome or in the absence of other defects. A large fraction of clefts occurs without other defects and is termed isolated orofacial clefts.

References:

[1]. A Jugessur, et al. The genetics of isolated orofacial clefts: from genotypes to subphenotypes. Oral Dis. 2009 Oct;15(7):437-53. [Content Brief]

[2]. Amel Gritli-Linde, et al. The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models. Curr Top Dev Biol. 2008;84:37-138. [Content Brief]

[3]. Di Wu, et al. DLX4 is associated with orofacial clefting and abnormal jaw development. Hum Mol Genet. 2015 Aug 1;24(15):4340-52. [Content Brief]

[4]. Fedik Rahimov, et al. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008 Nov;40(11):1341-7. [Content Brief]

[5]. Fowzan S Alkuraya, et al. SUMO1 haploinsufficiency leads to cleft lip and palate. Science. 2006 Sep 22;313(5794):1751. [Content Brief]

[6]. M A Sözen, et al. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet. 2001 Oct;29(2):141-2. [Content Brief]

[7]. P A Jezewski, et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet. 2003 Jun;40(6):399-407. [Content Brief]

[8]. P Leoyklang, et al. A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet. 2006 Jun;43(6):e28. [Content Brief]

[9]. P N Kantaputra, et al. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res. 2003 Jun;82(6):433-7. [Content Brief]

[10]. R A Spritz, et al. The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr. 2001 Dec;13(6):556-60. [Content Brief]

[11]. Satoshi Suzuki, et al. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet. 2009 Mar;84(3):406-11. [Content Brief]

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