Rare Diseases and Their Orofacial Manifestations - an Interdisciplinary Assignment in Dentistry

Aim: In the European Union, a disease is deemed to be "rare" if fewer than 2000 people are suffering from it. Worldwide 7.000-8.000 rare diseases are know and about four million people are affected in Germany. 15% of the rare diseases can become manifest in the orofacial region. It takes approximately seven years to receive the right diagnosis. Providing and linking different treatment cases on a freely accessible "register for orofacial manifestations in people with rare diseases" can improve patient care and can lead to earlier diagnosis. Material and Methods: Starting in 2011 material from various databases (Orphanet, e-medicine, Gene Clinics, EMA, OMIM) as well as Medline, medical literature and "grayliterature" was collected and evaluated. Since then the gathered information has been incorporated into the web-based, freely accessible register. All rare diseases with orofacial manifestations are registered with current subject-specific literature and categorized properly. Result: So far 405 rare diseases have been identified with orofacial manifestations and 138 out of those diseases or syndromes show dysgnathia. Each of these diseases has been illustrated with a description, a list of orofacial manifestations and related publications. An assignment into categories also enables a search on the basis of clinical symptoms in the register. Conclusion: Rare diseases and their symptoms come with difficult challenges regarding their therapy especially in orthodontics. By setting up a "register for orofacial manifestations in people with rare diseases-ROMSE" a platform is provided for dentists and orthodontists to work interdisciplinary on treatment strategies. Keywords: rare diseases, orofacial manifestations, interdisciplinary dentistry