An expert system for differential diagnosis of tall stature syndrome

There was created medical expert system for differential diagnosis of disorders and diseases manifested by tall stature. They were selected based on the information provided by two major computer databases, LDDB [London Dysmorphology Database] and Orphanet. Clinical signs, i.e. diagnostic criteria were developed according to 7 experts: manuals and textbooks, computer databases and online resources in pediatrics and rare diseases. Linguistic terms expressing the frequency and/or probability of presence of various symptoms were matched to numerical equivalents. The data from different experts were summarized according to the expertons' method and the inference engine was based on the Bayes theorem. An interface was made up by a set of slides with questions accompanied by boxes beside and user is expected to check corresponding boxes. The program was created in Borland C++ Builder. After having processed the entered data, the expert system produces the most probable five diagnostic possibilities and ranks them in order of likelihood.