Elements of morphology: standard terminology for the hands and feet. Am J Med Genet A 149A(1):93-127

National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-4472, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 01/2009; 149A(1):93-127. DOI: 10.1002/ajmg.a.32596
Source: PubMed


An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we introduce the anatomy of the hands and feet and define and illustrate the terms that describe the major characteristics of the hands and feet.

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Available from: Helga Toriello, Oct 29, 2015
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    • "Participants agreed to use standardized terms to describe clinical findings. It was accepted to begin using the standard terminology proposed by an international group of dysmorphologist and published in six papers by the American Journal of Medical Genetics [Biesecker et al., 2009; Carey et al., 2009; Hall et al., 2008; Hennekam et al., 2008; Hunter et al., 2008; Allanson et al., 2008]. In addition the group will follow the guidelines proposed by papers by Allanson et al. [2009]; Biesecker and Carey [2011]; Carey et al. [2009] [2012]. "
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    ABSTRACT: Ectodermal dysplasias (EDs) comprise a large clinically and etiologically heterogeneous group of genetic disorders characterized by abnormalities in tissues derived from the embryonic ectoderm. Controversy exists over which syndromes should be classified as EDs and which should be excluded from the classification. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health-care providers, and ultimately the individuals and families directly affected by EDs. The overarching goal of the Second International Conference was to develop a consensus on EDs classifications, with the ultimate goal of creating a system that integrates clinical and molecular knowledge, using an interactive Internet-based database that clinicians, researchers, and laymen can use. The Conference, brought together a group of experts from around the world, including a diverse health-care providers, researchers, patient advocate representatives, and administrators. The Conference was modeled after the 2008 conference, with plenary sessions, scientific updates, and small group discussions. Based on the present clinical knowledge, new molecular advances and both coupled with new bioinformatics developments, the participants agree to develop a multi-axis system approach for the classification of EDs. The multi-axis approach will include a clinical/phenotype axis, a gene-based axis, and a functional/pathways axis. The significance of the conference outcomes includes, a new classification approach that will foster a better understanding of EDs, open new fields of research and develop a nosologic approach that may have broad implications for classifying other hereditary conditions. © 2014 Wiley Periodicals, Inc.
    Full-text · Article · Oct 2014 · American Journal of Medical Genetics Part A
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    • "There is an error in the legend to figure 54 of the article entitled ''Elements of morphology: Standard terminology for the hands and feet'' [Biesecker et al., 2009]. The legend should read ''Figure 54. "

    Preview · Article · Jul 2012 · American Journal of Medical Genetics Part A
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    • "The six articles representing terms for these body regions were published in the January 2009 issue of the American Journal of Medical Genetics Part A [Allanson et al., 2009b; Biesecker et al., 2009; Carey et al., 2009; Hall et al., 2009; Hennekam et al., 2009; Hunter "
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    ABSTRACT: In 2005 the authors of this article formed an international working group to develop standardized definitions and terms to describe the physical variations used in human phenotypic analyses. This project, which came to be known as the Elements of Morphology, resulted in six articles proposing consensus definitions for almost 400 phenotypic variations of the head and face, periorbital region, ear, nose and philtrum, mouth and lips, and hands and feet. Every variation was accompanied by a representative figure depicting the feature. The papers were published in the January 2009 issue of the American Journal of Medical Genetics Part A and are available free access on both the Journal's web page and a National Institutes of Health-based site. The publication of the Elements definitions has spawned an ongoing dialogue about the proposed terms to describe phenotype. The working group considered the six articles as only the first step in the process, and four more papers on proposed terminology for the trunk, genital region, skin, and remainder of the limb terms are in preparation. The secondary outcome of the Elements project is the provision of a working methodology for the establishment of standardized terminology and definitions for phenotype analysis in general.
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