Individually, most of the 2,500 recognised dysmorphic conditions are rare, but collectively they cause high morbidity, so it is important that patients are diagnosed correctly and promptly, and receive appropriate care. An experienced clinical dysmorphologist can recognize and diagnose conditions based on these features; however there are relatively few experts in clinical dysmorphology, and access to one of these specialists varies widely across the EU.
Making a correct diagnosis is the cornerstone of patient management. It enables clinicians to locate other patients with the same condition; it facilitates the sharing of clinical experiences, and increases both individual and collective knowledge about rare conditions. For patients and their families, not having a diagnosis can be a source of anxiety and frustration, and people may feel isolated and let down by the apparent lack of information and treatment options. If a diagnosis can be made, it may help patients come to terms with their illness, reassures them that they are receiving appropriate care, and facilitates making contact with other affected individuals and families via appropriate patient support groups for advice and mutual support.
To date, there has been no formal network for dysmorphology, and though there is considerable knowledge and experience within existing European Centres of Expertise, the channels of communication between Centres are informal and inconsistent. More importantly, these informal 'networks' are not accessible to all clinicians, especially those working away from the large research institutions and teaching hospitals where Centres have been established. So, there is a clear need to create a formal network which can be accessed by any clinician who is faced with a rare and difficult to diagnose dysmorphic condition.
The EU Rare Disease Task Force has formed an expert group to look at the role that Centres of Expertise play in the diagnosis and management of rare diseases. The Group have recommended that Centres be encouraged to form Networks to facilitate the exchange of research, and to share information and expertise about rare conditions.