[Identification of rare diseases in the oral cavity]

In 2013, a national action plan for people with rare diseases (Nationaler Aktionsplan für Menschen mit Seltenen Erkrankungen, NAMSE) was adopted in the Federal Republic of Germany which is currently in the implementation phase. People with rare diseases are often confronted with huge difficulties in the diagnosis and therapy, and being repeatedly misdiagnosed also leads to psychological stress for those affected and their families. Of the up to 8000 rare diseases, about 15% can manifest in the orofacial region and thus give an indication of the underlying disease. A look in the oral cavity or consultative support to determine the cause of symptoms in the oral and maxillofacial region can possibly help the specialists in internal medicine to find the appropriate diagnosis.