Dysmorphic Syndromes

Jean‐Pierre Fryns, University Hospital of Leuven, Leuven, Belgium
Hilde Van Esch, University Hospital of Leuven, Leuven, Belgium

Published online: September 2006

DOI: 10.1002/9780470015902.a0005548

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

 References
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 Web Links
    ePath Crouzon syndrome; LocusID: 2261. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261
    ePath Jackson–Weiss syndrome; LocusID: 2263. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2263
    ePath Apert syndrome; MIM number: 101200. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?101200
    ePath Beare–Stevenson cutis gyrata syndrome; MIM number: 123790. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?123790
    ePath Crouzon syndrome; MIM number: 123500. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?123500
    ePath Jackson–Weiss syndrome; MIM number: 176943. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?176943
    ePath Muenke nonsyndromic coronal craniosynostosis; MIM number: 602849. 176943. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602849
    ePath Pfeiffer syndrome; MIM number: 101600. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?101600
    ePath Saethre–Chotzen syndrome (SCS); MIM number: 101400. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?101400

Related Sub-Topics:

Genes, Molecules and Cellular Processes | Developmental Disorders | Growth and Development | Specific Genetic Disorders | Gene Mapping by Disease Association | Inter-Individual Variation and Polymorphism | Quantitative Genetics
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Article Title: Dysmorphic Syndromes
 
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]