Search

Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease., (© International & American Associations for Dental Research.)

The skeletal system is structurally and functionally unique. It can be referred to as connective tissue that lost its ability to resist mineralization as mineralization in any other connective tissues is heterotopic. In addition to providing support for muscular attachments, the skeletal system protects nerves and harbors the hematopoietic and mesenchymal stem cells within the bone marrow compartment. However, there are distinct phenotypic and functional differences between the orofacial skeleton compared to axial and appendicular skeleton. How different is the jaw bone from other non‐craniofacial bones? Interestingly, developmental, biological, and clinical outcomes point to distinctive features that make the jaw bone unique. [ABSTRACT FROM AUTHOR]