Abstract for presentation at 11th International Congress of Human Genetics

Dysmorphology has accomplished much in the last 30 years, including the clinical and molecular delineation of many malformation syndromes and insight into developmental processes. Yet, the delineation of newly recognized disorders is declining. New methods are needed to delineate the remaining disorders, which are individually rare, but comprise a large fraction of patients.
Currently, archiving of malformation syndromes relies primarily on papers in medical journals. While such papers are useful, they are limited insofar as they function as an archive. One of the limiting factors in these reports is the language used to describe the patients. This language has never undergone an evaluation to determine its utility or validity.
An international group of dysmorphologists have initiated a project to establish objectively defined criteria for clinical case descriptions. The project began with the terminologic listing of the Winter-Baraitser dysmorphology database. The terms from this database have been assigned to groups to objectively evaluate and (re)define them. Some of the attributes of a useful set of terms include; one to one mapping of terms to features, dependent features must be coded (e.g., age is necessary to interpret height), and terms should be as granular as possible, that is, bundled terms must be separated (e.g., “myopathic facies”). The project proposes to rigorously define a set of terms that will be used for all clinical descriptions of dysmorphic features, including published case reports and series, databases, what we term the dysmorphenome. I will describe the process whereby the terms are evaluated and give examples of some well- and ill-defined terms. Finally, I will review some of the new methods available to dysmorphologists including databasing, text mining, and other methods that will allow the field to continue its exciting advances for the next 30 years.