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SYNDROC: microcomputer based differential diagnosis of malformation patterns.

D Schorderet, P Aebischer

Archives of Disease in Childhood

|March 1, 1985

Summary

Diagnosing rare human malformation patterns is challenging. A new microcomputer program, SYNDROC, aids in differential diagnosis of dysmorphic syndromes with 95% accuracy, improving clinical decision-making.

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Area of Science:

Medical Genetics
Clinical Dysmorphology
Computational Biology

Background:

Differential diagnosis of human malformation patterns is complex due to the large number of syndromes and their low incidence.
Clinical experience is often insufficient for accurate diagnosis of rare dysmorphic syndromes.

Purpose of the Study:

To develop and evaluate a microcomputer-based program for the differential diagnosis of dysmorphic syndromes.
To assist clinicians in diagnosing rare malformation patterns by compensating for experience limitations.

Main Methods:

Development of the SYNDROC program using PL/I-80 and an MDBS III database with over 700 signs and 300 syndromes.
Implementation of a three-tiered diagnostic algorithm: pseudo-Bayesian initial diagnosis, heuristic refinement, and Boolean retrieval for undiagnosed cases.
Retrospective validation using 100 dysmorphic cases.

Main Results:

The SYNDROC program demonstrated high reliability in differential diagnosis of dysmorphic syndromes.
A 95% agreement was observed between the program's top two suggested diagnoses and those made by experienced geneticists.
The system facilitates the recognition of new dysmorphic disorders through storage and retrieval of undiagnosed cases.

Conclusions:

The SYNDROC program is a valuable tool for the differential diagnosis of dysmorphic syndromes, enhancing diagnostic accuracy.
Computer-aided diagnosis can significantly support clinical geneticists in managing complex malformation patterns.
The SYNDROC system shows potential for identifying novel genetic disorders through its data management capabilities.

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