DYSCERNE

A European network of centres of expertise for Dysmorphology

A group headed by Professor Jill Clayton-Smith developed a European DG Sanco funded Network of Centres of Expertise for Dysmorphology (the study of birth defects or malformations which form recognisable patterns of growth, development, behaviour and physical features). Nowgen was the coordinating and managing centre for the Network. The main aims of the project were to raise current standards for the diagnosis and management of rare dysmorphic syndromes, and to improve dissemination of information on these conditions. A web-based electronic dysmorphology diagnostic system was established, enabling clinicians to submit difficult to diagnose cases electronically to an expert diagnostic panel, and guidelines for the clinical management of selected dysmorphic conditions created by expert consensus groups. These included criteria for diagnosis, protocols for review and screening, and information on management at different life-stages. The project serves as a model for future EU Networks of expertise for rare diseases.

Dysmorphology is the branch of genetics concerned with the study of birth defects or malformations which have recognisable patterns of growth, development, behaviour and physical features. DYSCERNE aims to raise standards for the diagnosis, management, and information dissemination of rare dysmorphic conditions.