Implementing the elements of morphology in the American Journal of Medical Genetics


  • How to Cite this Article: Biesecker LG, Carey JC. 2011. Implementing the elements of morphology in the American Journal of Medical Genetics. Am J Med Genet Part A 155:969–971.

In January 2009, seven articles were published in the Journal that proposed a series of definitions that delineate individual descriptors for human malformations [Allanson et al., 2009a,b; Biesecker et al., 2009; Carey et al., 2009; Hall et al., 2009; Hennekam et al., 2009; Hunter et al., 2009]. This initial series of articles was followed by a supplementary article on ear morphology [Hunter, 2010]. These articles defined, illustrated, and discussed the descriptors used by clinicians to document human anomalies. The goal of this effort is to unify the language of clinical descriptions to maximize the utility of published clinical reports, case series, and databases that include phenotypic data. To that end, the American Journal of Medical Genetics Part A will now require that this terminology be used for all publications. The purpose of this Commentary is to inform the readership of how this will be accomplished.

The new Journal policy will require that all manuscripts include approved terms, when they are available. Authors should familiarize themselves with the terminology when they are preparing to draft a manuscript for the Journal. This can be accomplished either by reviewing the published articles ( or by using the Elements of Morphology web site: This web site has been designed to link out from the home page to six pages that include a listing of the terms from each of the six original term definition articles, either via clicking on the anatomic region of the line drawing or via a listing of the regions (Fig. 1). From that page, readers can then link through to individual term pages (Fig. 2). Authors will need to review each use of a descriptive term to insure that their use of that term conforms to the approved definition. This is especially important for terms that have alternative objective and subjective definitions.

Figure 1.

Screen shot of the Elements of Morphology home page ( On the left is a hypertext list of the six original terminology articles [Allanson et al., 2009b; Biesecker et al., 2009; Carey et al., 2009; Hall et al., 2009; Hennekam et al., 2009; Hunter et al., 2009] and a final link with the references cited within those articles. In the middle of the page is some general background on the project, which is supplemented by the original introductory article [Allanson et al., 2009a]. On the right is an icon that highlights regions of the body that are included in the morphology. By clicking on these links, the user can be taken to the relevant group of terms.

Figure 2.

A typical definition from Elements of Morphology. This example shows two alternative objective and one subjective definition for the finding of Widely spaced eyes [Hall et al., 2009]. Note that the two distinct objective definitions are based upon alternative normative data sets and the subjective definition can be used if objective data are not available. The comments refer the reader to the source of the objective data [Hall et al., 2007]. The entry also lists the synonym of “hypertelorism,” which is an allowed, but not preferred, term. Note that the references to figure numbers within this call out box refer to the numbering from the original article. Finally, the web version of the definitions allows users to enter comments, which are curated, and then displayed if appropriate.

To facilitate compliance with this policy, we will require that authors indicate the use of every approved term by bolding the text of that term within the article. It will be important for authors to carefully review their manuscripts to insure that they are not using a nonstandard, alternative descriptor for an approved term. The Journal will require the use of the preferred term (see example, Fig. 2). For patient findings that are not included in any of the now seven terminology articles, they should appear in the article as plain font. The Journal plans on converting the approved terms to hypertext links that connect to the terminology web site. This bolding of approved terms should occur in all parts of the article: abstract, introduction, clinical reports, results, discussion, tables, and figures. We appreciate that this is a significant change in editorial policy and that it will take some time for authors to adjust to this new requirement. Undoubtedly, the implementation of this policy will necessitate additional revision cycles for some manuscripts, and we thank authors in advance for their patience with this process.

Finally, the co-chairs of the International Terminology Working Group [Allanson et al., 2009a] and the Editors of the American Journal of Medical Genetics Part A welcome feedback from authors, reviewers, and readers to improve and refine this process. The Elements of Morphology web page allows anyone to provide comments on the terms and definitions directly on the web page. Our goal is to collate these comments and modify the definitions when appropriate.

We are eager to improve these processes and policies and to advance our overarching aim which is to improve our understanding of the mechanisms of morphogenesis to improve the diagnosis and clinical care of patients with malformations.