Computer systems in dysmorphology

A number of computer systems have been dedicated to some aspect of dysmorphology. These systems have generally been developed in isolation and demonstrate much variation in their design. Some systems are purely database applications designed to take advantage of computer technology in order to provide up to date syndrome compendia. Conversely, a number of research projects have endeavoured to build an intelligent system that can formulate a diagnosis, either through its own knowledge-base, or through interaction with an expert user. This report reviews computer systems in dysmorphology with reference to these two alternative design methodologies. The London Dysmorphology Database and POSSUM provide case studies in a standard database approach. The Skeletal Dysplasia Diagnostician (SDD) is described in order to demonstrate how an expert system might operate in dysmorphology. Other work in the field is reviewed in terms of the common and distinctive aspects of their design with respect to the three aforenamed systems.