The project aims to raise the current standards for the diagnosis, management, and information dissemination for rare dysmorphic syndromes. Six designated Centres of Expertise for Dysmorphology (UK, Belgium, France, Italy, The Netherlands and Poland) are main partners in the project. The lead partner, Manchester University, UK, is the coordinating and managing centre for the Network.
The Network objectives are to:
- Form a Network of Centres of Expertise for dysmorphology
- Create a web-based electronic dysmorphology diagnostic system (DDS) for use by clinicians
- Develop management guidelines for selected dysmorphic conditions
Network of Centres of Expertise for Dysmorphology
Centres of Expertise (formerly Centres of Reference) for dysmorphology have been established in the EU by designation or reputation. However the number of Centres in each country varies considerably and is often not proportional to the size of the population. Furthermore, even within Centres of Expertise, the rarity of some of these conditions means that a diagnosis might be delayed or not make at all, so it makes sense to pool clinical expertise and resources wherever possible, and networking these Centres is a logical step towards this. Further details on the Network can be found here
Dysmorphology Diagnostic System Overview (DDS)
The DDS enables clinicians throughout the EU to submit cases electronically for diagnosis using a web-site interface hosted at specified 'nodes'. There are currently over 60 designated access points (Submitting nodes), in 26 different European countries. Guidelines for submission and on-line proformas are provided to ensure that submissions are made in a standard format using preferred descriptive terms. The system allows clinicians to upload photographic images and results of investigations including imaging studies to a secure, searchable archive. Within 30 days of submitting a case, a case summary report is prepared from the recommendations and opinions of the expert diagnostic panel and sent back to the submitting clinician. Further details on the DDS can be found here.
Guideline Development Overview
The Network will carry out a scoping exercise to identify four dysmorphic conditions where guidelines for clinical management are needed and will be of most benefit to patients. An expert review group for each condition will be created and consensus meetings held to draw up draft guidelines. The guidelines will include criteria for diagnosis, protocols for review and screening, and information on management at different life-stages. The guidelines will be piloted in participating centres and their impact and usage audited and evaluated. Further details on the Guidelines can be found here