Elements of morphology: General terms for congenital anomalies

Abstract

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.

Congenital Abnormalities of the Posterior Fossa

“…A malformation is defined as a congenital morphologic anomaly of a single organ or body part due to an alteration of the primary developmental program caused by a genetic defect (6). Gene mutations causing malformations may be de novo (ie, new in the affected child, rather than present in or transmitted by the parents) or inherited from the parents.…”

“…The latter is the case for autosomal recessive-inherited diseases (from an unaffected mother or father to her or his child), autosomal dominant-inherited diseases (from an affected mother or father to her or his child), X-linked diseases (from an affected mother to her son), and mitochondrially inherited diseases (from an affected mother to her child). A disruption is defined as a congenital morphologic anomaly caused by the breakdown of an anatomic structure that had a normal developmental potential (6). Disruptive causes include prenatal infection, hemorrhage, and ischemia, among others.…”

Cerebellar Cysts in Children: a Pattern Recognition Approach

“…A disruption is defined as a morphological defect of an organ, part of an organ, or a larger region of the body resulting from an extrinsic breakdown of, or an interference with, an originally normal developmental process [6,7].…”

Editor's forward to special articles: Elements of morphology

“…The following two articles in this issue of the Journal by Opitz and Neri [2013] and Hennekam et al [2013] address complex issues surrounding the definitions and terminology for congenital anomalies. Opitz and Neri [2013] provide an historical foundation and Hennekam et al [2013] add the newest addition to the Elements of Morphology by proposing consensus definitions for the commonly used general terms.…”

“…Opitz and Neri [2013] provide an historical foundation and Hennekam et al [2013] add the newest addition to the Elements of Morphology by proposing consensus definitions for the commonly used general terms. Like the other papers in this series [Allanson et al, 2009] Taking up where three international working groups on malformation nomenclature left off in the 1980s, the Elements Working Group proposes standard terminology and definitions for general terms in the field, including anomaly, malformation, deformation, sequence, and syndrome.…”