Dysmorphic Syndromes

Abstract

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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Further Reading

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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]