Elements of morphology: general terms for congenital anomalies

Am J Med Genet A. 2013 Nov;161A(11):2726-33. doi: 10.1002/ajmg.a.36249. Epub 2013 Oct 3.


An international group of clinicians working in the field of dysmorphology has established a process for the standardization of terms used to describe human morphology. The goals are to standardize these terms and develop consensus regarding their definitions. This project will increase the usefulness and precision of descriptions of the human phenotype and facilitate reliable comparisons of phenotypic findings among clinicians and researchers in medicine, developmental biology, and genetics. Here we define and illustrate the general terms that describe congenital anomalies as related to human conditions.

Keywords: anomaly; association; definitions; deformation; disruption; dysmorphology; dysplasia; genotype; malformation; morphology; nomenclature; phenotype; sequence; syndrome; variant.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Congenital Abnormalities / classification*
  • Congenital Abnormalities / diagnosis*
  • Humans
  • Phenotype*
  • Terminology as Topic