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Review
. 2018 Nov 15;4(1):160-164.
doi: 10.1002/lio2.214. eCollection 2019 Feb.

Cellular and molecular mechanisms of cleft palate development

Anita S Deshpande  1 , Steven L Goudy  1
Affiliations
Review

Cellular and molecular mechanisms of cleft palate development

Anita S Deshpande et al. Laryngoscope Investig Otolaryngol. .

Abstract

Cleft lip and palate are common craniofacial deformities. The etiology underlying these deformities is complex and multifactorial and they can occur as part of one of many chromosomal syndromes, Mendelian single gene disorders, teratogenic effects, and as yet uncharacterized syndromes. Our paper will provide an overview of the multiple genes and molecular pathways that have been implicated in palatal fusion. We believe that understanding the molecular mechanisms of cleft formation can help clinicians anticipate which patients may have difficulties healing and in the future allow them to make surgical and medical treatment decisions based on genetic information.

Keywords: Cleft lip; cleft palate; embryology; genetics; molecular pathways.

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Figures

Figure 1
Figure 1
A child with bilateral cleft lip.
Figure 2
Figure 2
Intraoral view of cleft palate
Figure 3
Figure 3
Palatal growth and fusion. Palatal shelves (PS), grow down the sides of the tongue (T), elevate, contact each other and the nasal septum (NS) and eventually fuse. (From Lane J, Kaartinen V. Signaling networks in palate development. Wiley Interdiscip Rev Syst Biol Med 2014;6:11.)
Figure 4
Figure 4
A. Signalling pathways involved in palatal epithelial differentiation include Fgf10, Irf6, and Tbx1 pathways. Mutations of genes involved in these pathways can lead to clefting. B. Signalling cascade involved in loss of the medial edge epithelium. (From Lane J, Kaartinen V. Signaling networks in palate development. Wiley Interdiscip Rev Syst Biol Med 2014;6:13.)
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