Craniofacial Abnormalities: Molecular Basis


Monogenic abnormalities of skull differentiation can be grouped into three categories: disorders of cranial ossification (craniosynostosis, foramina parietalia), of midface development (holoprosencephaly, cleft lip and palate) and of differentiation of the first and second branchial arches (branchio‐oto‐renal dysplasia and Treacher–Collins). Many of the genes identified in these groups code for transcription factors and signaling proteins.

Keywords: craniosynostosis; foramina parietalia; holoprosencephaly; cleft lip and palate; branchio‐oto‐renal dysplasia; Treacher–Collins


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Web Links absent homolog 1 (Drosophila) (EYA1); Locus ID: 2138. LocusLink: Fibroblast growth factor receptor 1 (fms‐related tyrosine kinase 2, Pfeiffer syndrome) (FGFR1); Locus ID: 2260. LocusLink: (see also FGFR2, Locus ID 2263, and FGFR3, Locus ID 2261) msh homeo box homolog 2 (Drosophila) (MSX2); Locus ID: 4488. LocusLink: Runt‐related transcription factor 2 (RUNX2); Locus ID: 860. LocusLink: Sonic hedgehog homolog (Drosophila) (SHH); Locus ID: 6469. LocusLink: Treacher Collins–Franceschetti syndrome 1 (TCOF1); Locus ID: 6949. LocusLink: Twist homolog (acrocephalosyndactyly 3; Saethre–Chotzen syndrome) (Drosophila) (TWIST); Locus ID: 7291. LocusLink:‐post/Omim/dispmim?601653 Eyes absent homolog 1 (Drosophila) (EYA1); MIM number: 601653. OMIM:‐post/Omim/dispmim?136350 Fibroblast growth factor receptor 1 (fms‐related tyrosine kinase 2, Pfeiffer syndrome) (FGFR1); MIM number: 136350. OMIM: (see also FGFR2, MIM number 176943, and FGFR3, MIM number 134934)‐post/Omim/dispmim?123101 msh homeobox homolog 2 (Drosophila) (MSX2); MIM number: 123101. OMIM:‐post/Omim/dispmim?600211 Runt‐related transcription factor 2 (RUNX2); MIM number 600211. OMIM:‐post/Omim/dispmim?600725 Sonic hedgehog homolog (Drosophila) (SHH); MIM number: 600725. OMIM:‐post/Omim/dispmim?606847 Treacher Collins–Franceschetti syndrome 1 (TCOF1); MIM number: 606847. OMIM:‐post/Omim/dispmim?601622 Twist homolog (acrocephalosyndactyly 3; Saethre–Chotzen syndrome) (Drosophila) (TWIST); MIM number: 601622. OMIM:

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Müller, Ulrich(Jan 2006) Craniofacial Abnormalities: Molecular Basis. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005509]