Human Malformation Terminology

Standard Terminology for the Hands and Feet

An early classification of limb anomalies is that of Isidore Geoffrey Saint-Hilaire (secondary citation, not reviewed). This classification divided anomalies into three categories (phocomele, hemimele, and ectromele). A more recent classification is that by Frantz and O'Rahilly [1961]. Modifications of this scheme were implemented by others [Swanson et al., [1968]; Swanson, [1976]]. These schemes are hierarchical classifications and most do not include definitions of the terms.

The similar, but distinct, system of Temtamy and McKusick [1969] was developed. Most of the seven categories that they defined were subdivided into syndromic and non-syndromic forms. While this approach is clearly useful when the goal is to define distinct diagnostic entities, it is not appropriate for a purely descriptive endeavor. The Temtamy and McKusick system focuses on terms for commonly observed patterns of anomalies, not individual structures. Findings that do not conform to commonly recognized patterns cannot be described by their system.

Poznanski [1984] lists a glossary of terms used to describe abnormalities and variants of the hands (his text does not address the foot). These definitions are insufficient for a terminological effort such as is undertaken here. However, some are a starting point and others are listed below as being replaced by a more precise term. Finally, the textbook by Aase [1990] includes a number of definitions that were also useful.

A detailed description of the general descriptors and background for the terms found in this section is available for reference.

The definitions are listed alphabetically based on the physical feature, not the modifier.