ROMSE - A Web-based Register for Orofacial Manifestations in People with Rare Diseases

Aims: Around 30 million people in Europe are affected by a rare disease. Approximately 80% of all known rare diseases are of genetic origin, and around 15% can become manifest in the orofacial region. This may include anomalies of tooth structure, soft tissue, and craniofacial dysplasia such as cleft lip and palate as well as dysgnathia. In medicine and dentistry, there is often little knowledge of clinical manifestations, diagnosis, and treatment of a rare disease. This leads to patients receiving incorrect diagnoses and difficulties in patient-centred care in general. The aim of this working group is to establish a "register for orofacial manifestations in people with rare diseases" in order to allow physicians and dentists as well as patients and their families to inform themselves more about rare diseases with orofacial manifestations. Subject: Starting in 2011, databases (Orphanet, OMIM) as well as PubMed, medical literature and "gray literature" were collected and evaluated. Since 2013 the gathered information has been incorporated into the web-based, freely accessible register at http://romse.org. All rare diseases with orofacial manifestations are registered with current subject-specific literature and categorised properly. Result: So far 471 rare diseases with orofacial manifestations have been listed in the ROMSE register. All rare diseases with orofacial manifestations are properly categorised. The register is also connected to other databases and information platforms for rare diseases such as Orphanet, Research for Rare, se-atlas, and ZIPSE. Additionally, we are collaborating with seven university clinics that serve as a first medical / dental point of contact for those who are affected. Conclusion: Rare diseases and their symptoms come with difficult challenges regarding their therapy. By setting up a "register for orofacial manifestations in people with rare diseases-ROMSE", a platform is provided for dentists and physicians to work in an interdisciplinary manner on treatment strategies. In future, this register should also serve as a source of information for patients and their families. Keywords: rare diseases, interdisciplinary dentistry, register, orofacial manifestations