An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project
© Biesecker; licensee BioMed Central Ltd. 2010
Received: 20 August 2010
Accepted: 4 October 2010
Published: 4 October 2010
Human structural malformations (anomalies or birth defects) have an enormous and complex range of manifestations and severity. The description of these findings can be challenging because the variation of many of the features is continuous and only some of them can be objectively assessed (that is, measured), among other factors. An international group of clinicians resolved to develop a set of terms that could be used to describe human structural malformations, under the general project name 'Elements of Morphology'. Here, the background to the project, progress to date, and the practical implementation of the terminology in research reporting is discussed.
Human structural malformations (anomalies, or birth defects) have a broad and complex range of manifestations and severities. The description of these findings can be challenging because the variation of the features is continuous and only some of them can be objectively assessed (that is, measured). Additionally, different specialties (embryologists, developmental biologists, surgeons, clinical geneticists, and so on) have developed descriptors for these findings that are based either on mechanistic, etiologic, or management considerations, and are thus laden with meaning, which can be invalidated by changing knowledge. Some terms have disparate definitions even within a specialty. Finally, a number of terms previously in common clinical use were disparaging (mongoloid slant, arachnodactyly, devil ear, and so on) and needed to be replaced with more neutral terms.
The Elements of Morphology project
Implementation of the standardized terminology
Standards of terminology and reporting have been suggested; however, without good uptake by researchers and editors, confusion over terminology will persist. It was the intent of the group that the guidelines and suggestions would be taken up by the wider research community. These terms would be very useful for phenotype databases. The human phenotype ontology system  has begun to incorporate the Elements of Morphology terms and definitions into their system. An example of a practical implementation of the terms is the genotype-phenotype databases for the International Standards for Cytogenomic Arrays consortium (http://iscaconsortium.org/ and see also ).
For every term in case report descriptions, tables, and figure legends, authors should review the malformation terminology website or terminology papers (both cited above) to determine if the term is acceptable.
For terms that have alternative objective and subjective definitions, if the subjective definition is used, this should be specified. For example: 'The patient had telecanthus (subjective)'. If an objective definition is used for a quantitative finding, the measurement must be specified and in this case it is not necessary to specify that it is objective, since that is redundant. For example: 'The patient had telecanthus (inner canthal distance 3.9 cm, > 2 SD)'.
Manuscripts may include terms listed as 'synonyms' (see example 1, figure 2: Telecanthusre: the synonym dystopia canthorum), although this is not preferred.
Manuscripts may not include terms listed under 'replaces' (see example 2, figure 2; Palpebral fissure, upslanted).
A hyperlink (where possible) for the first occurrence of each term in a report to the malformation terminology website, or a mirror site, to allow readers to readily access definitions and example photographs of the finding.
In support of this, the BMC journals have created wording about the terminology for their instructions for authors, strongly encouraging compliance with the recommended terminology from the elements of morphology project, and it is the hope that other journals will follow their lead in supporting this important issue. It is further hoped that this article provides some practical guidance on how to do so.
A hypothetical clinical features table that would appear within the primary manuscript
Widely spaced eyes
A hypothetical detailed clinical data table format that could be included as supplemental data with a manuscript; these data for each patient support and extend the data presented in the above summary table
Age at examination
10.2 kg (approximately 50th centile)
9.8 kg (approximately 50th centile)
75 cm (approximately 50th centile)
73 cm (approximately 50th centile
49.5 cm (> 97th centile)
48.5 cm (> 97th centile)
5.5 cm (> 2 SD)
5.5 cm (> 2 SD)
Inner canthal distance
1.8 cm (normal)
The display of data in standardized formats, using defined terms, traceable to example images, commentaries, and norms, distinguishing absent findings from those not assessed, and distinguishing subjective from objective assessments, will allow readers and data miners to independently assess underlying data and conclusions and use case reports and other published clinical analyses to make new discoveries in the future. Like all new approaches to publishing and displaying data, these standards and approaches will need to evolve, and the BMC journal community, and hopefully all biomedical journals, should participate in this process. All of the editors look forward to feedback from the readers and authors on ways to improve and refine our approach to this challenge.
The work of LB is supported by Intramural funding from the National Human Genome Research Institute of the National Institutes of Health. LB is grateful for the support and collegiality of the terminology project co-chairs Judith Allanson, John Carey, Raoul Hennekam, Bryan Hall, and Alasdair Hunter, and all of the additional coauthors who contributed to the six terminology manuscripts.
- Hunter L, Cohen KB: Biomedical language processing: what's beyond PubMed?. Mol Cell. 2006, 21: 589-594. 10.1016/j.molcel.2006.02.012.View ArticlePubMedPubMed CentralGoogle Scholar
- Biesecker LG: Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations. Clin Genet. 2005, 68: 320-326. 10.1111/j.1399-0004.2005.00509.x.View ArticlePubMedGoogle Scholar
- Allanson JE, Biesecker LG, Carey JC, Hennekam RC: Elements of morphology: introduction. Am J Med Genet A. 2009, 149A: 2-5. 10.1002/ajmg.a.32601.View ArticlePubMedPubMed CentralGoogle Scholar
- Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G: Elements of morphology: standard terminology for the head and face. Am J Med Genet A. 2009, 149A: 6-28. 10.1002/ajmg.a.32612.View ArticlePubMedPubMed CentralGoogle Scholar
- Hall BD, Graham JM, Cassidy SB, Opitz JM: Elements of morphology: standard terminology for the periorbital region. Am J Med Genet A. 2009, 149A: 29-39. 10.1002/ajmg.a.32597.View ArticlePubMedGoogle Scholar
- Hennekam RC, Cormier-Daire V, Hall JG, Mehes K, Patton M, Stevenson RE: Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A. 2009, 149A: 61-76. 10.1002/ajmg.a.32600.View ArticlePubMedGoogle Scholar
- Carey JC, Cohen MM, Curry CJ, Devriendt K, Holmes LB, Verloes A: Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A. 2009, 149A: 77-92. 10.1002/ajmg.a.32602.View ArticlePubMedGoogle Scholar
- Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L: Elements of morphology: standard terminology for the ear. Am J Med Genet A. 2009, 149A: 40-60. 10.1002/ajmg.a.32599.View ArticlePubMedGoogle Scholar
- Biesecker LG, Aase JM, Clericuzio C, Gurrieri F, Temple IK, Toriello H: Elements of morphology: standard terminology for the hands and feet. Am J Med Genet A. 2009, 149A: 93-127. 10.1002/ajmg.a.32596.View ArticlePubMedPubMed CentralGoogle Scholar
- Robinson PN, Mundlos S: The human phenotype ontology. Clin Genet. 2010, 77: 525-534. 10.1111/j.1399-0004.2010.01436.x.View ArticlePubMedGoogle Scholar
- Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010, 86: 749-764. 10.1016/j.ajhg.2010.04.006.View ArticlePubMedPubMed CentralGoogle Scholar
- The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1741-7015/8/56/prepub