American Journal of Medical Genetics Part A

Cover image for Vol. 170 Issue 10

Edited By: John C. Carey

Impact Factor: 2.082

ISI Journal Citation Reports © Ranking: 2015: 106/165 (Genetics & Heredity)

Online ISSN: 1552-4833

Associated Title(s): American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Virtual Issue: Elements of Morphology


We are pleased to present to the readership a Virtual Issue comprising the publications of the Elements of Morphology series from the American Journal of Medical Genetics Part A, freely available online. We have assembled here in a single, linked set the definitions from several publications, including recommended terminology for the head and face (75 terms) [Allanson, et al. 2009a], the periorbital region (39 terms) [Hall, et al. 2009], the ear (73 terms) [Hunter, et al. 2009], the nose and philtrum (51 terms) [Hennekam, et al, 2009], the lips, mouth, and oral region (60 terms) [Carey, et al. 2009], the hands and feet (102 terms) [Biesecker, et al. 2009], the incisura of the ear (11 terms) [Hunter, 2012], the genitourinary system (33 terms) [Hennekam, et al. 2013a], and most recently, a set of definitions for general terms, such as ‘syndrome’ (11 terms) [Hennekam, et al. 2013b]. The cumulative efforts of this group have resulted in objective, standardized definitions for more than 450 descriptors of human morphology and general terms for organizing these findings into patient assessments. The efforts will be followed in the near future by additional definitions for limb anomalies, skin, and trunk.

The reader is also directed to other included manuscripts by members of the Elements of Morphology working group that summarize the impetus and utility of the definitions [Allanson, et al. 2009b; Biesecker and Carey 2011; Carey, et al. 2012; Carey, 2013, Opitz and Neri, 2013] and correspondence on this topic.

Our hope is that by assembling all of these resources in a single location, physicians and researchers working in our field can make maximal use of these resources.

John C. Carey, Editor-in-Chief, The American Journal of Medical Genetics Part A and University of Utah, Department of Pediatrics

Leslie G. Biesecker, Deputy Editor, The American Journal of Medical Genetics Part A and University of Utah, Department of Pediatrics


Editor's forward to special articles: Elements of morphology
John C. Carey. 2013. AJMG 161A:2710.

Historical perspective on developmental concepts and terminology
John M. Opitz and Giovanni Neri. 2013. AJMG 161A:2711-2725.

Elements of morphology: General terms for congenital anomalies
Raoul C. Hennekam, Leslie G. Biesecker, Judith E. Allanson, Judith G. Hall, John M. Opitz, I Karen Temple and John C. Carey, Elements of Morphology Consortium. 2013. AJMG 161A:2726-2733.

Elements of morphology: Standard terminology for the external genitalia
Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain. 2013. AJMG 161A:1238-1263.

Implementing the elements of morphology in the American Journal of Medical Genetics
Leslie G. Biesecker and John C. Carey. 2011. AJMG 155A:969-971.

The elements of morphology: Ear—An initial approach for the incisura
Alasdair G. Hunter. 2010. AJMG 152A:401-403.

Editorial comment: Editor's foreword to a special issue “Elements of Morphology: Standard Terminology”
John C. Carey. 2009. AJMG 149A:1.

Elements of morphology: Introduction
Judith E. Allanson, Leslie G. Biesecker, John C. Carey and Raoul C.M. Hennekam. 2009. AJMG 149A:2-5.

Elements of morphology: Standard terminology for the head and face
Judith E. Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Max Muenke and Giovanni Neri. 2009. AJMG 149A:6-28.

Elements of morphology: Standard terminology for the periorbital region
Bryan D. Hall, John M. Graham Jr., Suzanne B. Cassidy and John M. Opitz. 2009. AJMG 149A:29-39.

Elements of morphology: Standard terminology for the ear
Alasdair Hunter, Jaime L. Frias, Gabriele Gillessen-Kaesbach, Helen Hughes, Kenneth Lyons Jones and Louise Wilson. 2009. AJMG 149A:40-60.

Elements of morphology: Standard terminology for the nose and philtrum
Raoul C.M. Hennekam, Valerie Cormier-Daire, Judith G. Hall, Károly Méhes, Michael Patton and Roger E. Stevenson. 2009. AJMG 149A:61-76.

Elements of morphology: Standard terminology for the lips, mouth, and oral region
John C. Carey, M. Michael Cohen Jr., Cynthia J.R. Curry, Koenraad Devriendt, Lewis B. Holmes and Alain Verloes. 2009. AJMG 149A:77-92.

Elements of morphology: Standard terminology for the hands and feet
Leslie G. Biesecker, Jon M. Aase, Carol Clericuzio, Fiorella Gurrieri, I. Karen Temple and Helga Toriello. 2009. AJMG 149A:93-127.


In addition to these articles, please also see Prof. John Carey’s article in the journal, Human Mutation:

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions
John C. Carey, Judith E. Allanson, Raoul C.M. Hennekam and Leslie G. Biesecker. 2012. Hum Mutat 33:781-786.

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