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International Poster Journal of Dentistry and Oral Medicine
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Int Poster J Dent Oral Med 18 (2016), No. 4     15. Dec. 2016
Int Poster J Dent Oral Med 18 (2016), No. 4  (15.12.2016)

Poster 1053, Language: German/English


Rare Diseases and Their Orofacial Manifestations - an Interdisciplinary Assignment in Dentistry
Hanisch, Marcel / Hanisch, Lale / Benz, Korbinian / Jackowski, Jochen
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

Conference/Exhibition:
Kieferorthopädie - Perspektiven in Diagnostik und Therapie
18.-21. November 2015
Mannheim, Germany