Dysmorphic Syndromes


Syndromes of facial dysmorphism may present very variable phenotypes even when the underlying molecular basis is similar. Several well‐known craniofacial abnormalities have been found to be alleles at the same locus.

Keywords: dysmorphism; craniofacial; development; holoprosencephaly; facial asymmetry; craniosynostosis


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Further Reading

Bellus GA, Gaudenz K, Zackai EH, et al. (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nature Genetics 14: 174–176.

Cohen Jr MM (2001) Asymmetry: molecular, biologic, embryopathic, and clinical perspectives. American Journal of Medical Genetics 101: 292–314.

el Ghouzzi V, Le Merrer M, Perrin‐Schmitt F, et al. (1997) Mutations of the TWIST gene in the Saethre–Chotzen syndrome. Nature Genetics 15: 42–46.

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Lajeunie E, Catala M and Renier D (1999) Craniosynostosis: from a clinical description to an understanding of bone formation of the skull. Childs Nervous System 15: 676–680.

Muenke M, Gripp KW, McDonald‐McGinn DM, et al. (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. American Journal of Human Genetics 60: 555–564.

Ornitz DM, Xu J, Colvin JS, et al. (1996) Receptor specificity of the fibroblast growth factor family. Journal of Biological Chemistry 271: 15292–15297.

Przylepa KA, Paznekas W, Zhang M, et al. (1996) Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome. Nature Genetics 13: 492–494.

Roessler E and Muenke M (1999) The molecular genetics of holoprosencephaly: a model of brain development for the next century. Childs Nervous System 15: 646–651.

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Web Links

Crouzon syndrome; LocusID: 2261. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261

Jackson–Weiss syndrome; LocusID: 2263. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2263

Apert syndrome; MIM number: 101200. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?101200

Beare–Stevenson cutis gyrata syndrome; MIM number: 123790. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?123790

Crouzon syndrome; MIM number: 123500. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?123500

Jackson–Weiss syndrome; MIM number: 176943. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?176943

Muenke nonsyndromic coronal craniosynostosis; MIM number: 602849. 176943. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602849

Pfeiffer syndrome; MIM number: 101600. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?101600

Saethre–Chotzen syndrome (SCS); MIM number: 101400. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?101400

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How to Cite close
Fryns, Jean‐Pierre, and Van Esch, Hilde(Sep 2006) Dysmorphic Syndromes. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005548]