Polydactyly: How many disorders and how many genes?

Authors

  • Leslie G. Biesecker

    Corresponding author
    1. National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland
    • National Institutes of Health, National Human Genome Research Institute, Building 49, Room 4A80, Bethesda, MD 20892.
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  • This article is a US Government work and, as such, is in the public domain in the United States of America.

Abstract

Disorders that include polydactyly as a manifestation are diverse and numerous. Cataloging these disorders by phenotype and genotype demonstrates numerous overlapping phenotypes, genetic heterogeneity of phenotypes, and distinct phenotypes generated from mutations in single genes. To assess these issues, a list of disorders with polydactyly has been compiled from several sources. Among 119 disorders, 39 disorders are associated with mutations in genes, and among these, genotypic and phenotypic overlap is demonstrated. These issues highlight the need for a diagnostic system that catalogs both genotype and phenotype. Published 2002 Wiley-Liss, Inc.

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