Elements of Morphology: Human Malformation Terminology

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 describe the general background of the project and the various issues we have tried to take into account in defining the terms. Published 2009 Wiley-Liss, Inc.

This Web site contains six articles that describe the initial results of a project intended to develop accurate and clear definitions of terms for the craniofacies in general, the major components of the face, and the hands and feet [Allanson et al., [2009]; Biesecker et al., [2009]; Carey et al., [2009]; Hall et al., [2009]; Hennekam et al., [2009]; Hunter et al., [2009]]. These articles are the result of a significant amount of planning, organization, negotiation, review, and writing, while, at the same time, they are but a start.