Visualising A Skeletal Dysplasia Knowledgebase

Skeletal dysplasias affect around 4 million people worldwide. Various nosologies exist for describing and classifying their clinical, radiological, and genetic features. A methodological framework is needed to establish a single consolidated nosology for skeletal dysplasias based on the existing multiple classification systems.. Once established, the terms used can be linked to an existing database of exemplar x-ray images and explored interactively. As a proof-of-concept, a pilot study was conducted to investigate the potential in both establishing a consolidated nosology and visualisation of the results. This paper reports on a preliminary methodological framework for proceeding and initial visualisation results which go some way towards demonstrating the potential of such a system. The aim of this project is to assist clinicians to make more accurate diagnoses of skeletal dysplasias and to foster translational research. This is set against the background of an existing unwieldy classification system.