Projevy vzácných onemocnění v orofaciální oblasti – Míšová Eva (2024)

From a medical perspective, rare diseases are characterized by a large number and wide variety of disorders and symptoms, which can vary even within a single syndrome, not just among different diseases. The same disease can have multiple subtypes, and affected individuals may exhibit different clinical manifestations. The impact on lifespan varies significantly among different rare diseases; some of these diseases cause death at birth, many are degenerative or life-threatening, while others are compatible with a normal life if diagnosed early and treated properly. The presented monograph addresses the issue of rare diseases and their manifestations in the orofacial region, primarily from the perspective of a dentist. The introductory chapter, in addition to basic definitions, discusses classification systems that are provided for each disease along with the name, synonyms, prevalence, and type of inheritance. The largest part of the book contains more than fifty case studies that provide concrete images of the diseases and are supplemented with rich visual documentation. Dental development disorders, due to their relatively easy diagnosis, appear to be a suitable marker for developmental defects of the orofacial landscape, and therefore the monograph will be...