Craniofacial Abnormalities: Molecular Basis

Ulrich Müller, Institut für Humangenetik, Justus‐Liebig‐Universität, Giessen, Germany

Published online: January 2006

DOI: 10.1038/npg.els.0005509

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

 References
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 Web Links
    ePath http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2138Eyes absent homolog 1 (Drosophila) (EYA1); Locus ID: 2138. LocusLink:
    ePath http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2260 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) http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4488 msh homeo box homolog 2 (Drosophila) (MSX2); Locus ID: 4488. LocusLink:
    ePath http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=860 Runt-related transcription factor 2 (RUNX2); Locus ID: 860. LocusLink:
    ePath http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6469 Sonic hedgehog homolog (Drosophila) (SHH); Locus ID: 6469. LocusLink:
    ePath http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6949 Treacher Collins–Franceschetti syndrome 1 (TCOF1); Locus ID: 6949. LocusLink:
    ePath http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7291 Twist homolog (acrocephalosyndactyly 3; Saethre–Chotzen syndrome) (Drosophila) (TWIST); Locus ID: 7291. LocusLink:
    ePath http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601653 Eyes absent homolog 1 (Drosophila) (EYA1); MIM number: 601653. OMIM:
    ePath http://www.ncbi.nlm.nih.gov/htbin-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)
    ePath http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?123101 msh homeobox homolog 2 (Drosophila) (MSX2); MIM number: 123101. OMIM:
    ePath http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600211 Runt-related transcription factor 2 (RUNX2); MIM number 600211. OMIM:
    ePath http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600725 Sonic hedgehog homolog (Drosophila) (SHH); MIM number: 600725. OMIM:
    ePath http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606847 Treacher Collins–Franceschetti syndrome 1 (TCOF1); MIM number: 606847. OMIM:
    ePath http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601622 Twist homolog (acrocephalosyndactyly 3; Saethre–Chotzen syndrome) (Drosophila) (TWIST); MIM number: 601622. OMIM:

Related Sub-Topics:

Developmental Disorders | Organogenesis | Growth and Development | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease
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Article Title: Craniofacial Abnormalities: Molecular Basis
 
How to Cite close
Müller, Ulrich(Jan 2006) Craniofacial Abnormalities: Molecular Basis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005509]