Other Names for this Disease
- Split-foot deformity with ectrodactyly and mandibulofacial dysostosis
- Patterson Stevenson Fontaine syndrome
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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.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
Last updated: 2/18/2016
- Patterson-Stevenson-Fontaine syndrome. Orphanet. October, 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439.
- 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.
- 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.