Elements of morphology: Standard terminology for the head and face

Judith E. Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Max Muenke, Giovanni Neri

Research output: Contribution to journalArticlepeer-review

129 Scopus citations


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 craniofacies and define and illustrate the terms that describe the major characteristics of the cranium and face. Published 2009 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)6-28
Number of pages23
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
StatePublished - Jan 2009


  • Anatomy
  • Anthropometry
  • Chin
  • Cranium
  • Definitions
  • Face
  • Head
  • Mandible
  • Maxilla
  • Neck
  • Nomenclature

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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