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Diseases

Genetic and Rare Diseases Information Center (GARD)

Patterson-Stevenson-Fontaine syndrome


Other Names for this Disease
  • Split-foot deformity with ectrodactyly and mandibulofacial dysostosis
  • Patterson Stevenson Fontaine syndrome
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Overview

Patterson-Stevenson-Fontaine syndrome is a very rare type of acrofacial dysostosis characterized by abnormal development of the bones and tissues of the face (mandibulofacial dysostosis) and limb abnormalities. Mandibulofacial features may include retrognathism (recessed jaw), cleft palate, and anomalies of the external ears. Limb abnormalities consist of split-foot deformity (also called ectrodactyly) with webbing or fusion of some toes (syndactyly). This syndrome is inherited in an autosomal dominant manner.[1]
Last updated: 2/18/2016

References

  1. Patterson-Stevenson-Fontaine syndrome. Orphanet. October, 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439.
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Basic Information

  • The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
  • More information on limb abnormalities can be found at the following link from MEDLINEplus, the National Library of Medicine Web site designed to help you research your health questions.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Patterson-Stevenson-Fontaine syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Split-foot deformity with ectrodactyly and mandibulofacial dysostosis
  • Patterson Stevenson Fontaine syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.