Rare hereditary diseases affect an estimated 1 in 10 people. Although many of these conditions are individually rare, the total number of people affected is great. Rare disorders are difficult to diagnose and are often misdiagnosed. While progress has been made in identifying and understanding causes, pathologies, and underlying mechanisms of many rare diseases, manifestations in the dental, oral, and craniofacial tissues are frequently overlooked, underappreciated, underused in diagnosis, or not fully considered in treatment planning. This has implications on oral and overall health and quality of life of affected individuals.
The object of this interdisciplinary Research Topic is to highlight oral, dental, and craniofacial manifestations of rare and undiagnosed hereditary disorders in order to increase knowledge of these conditions among healthcare providers, dental clinicians, and scientists. When new rare disorders are recognized, it is important for affected patients to be referred to a craniofacial/dental team for clinical evaluation, the collection of both medical and dental histories and clinical data for translational studies, the monitoring of the disorder over time, and treatment by an integrated medical/dental team to optimize oral and overall health. Only through this careful approach can we accomplish three objectives of paramount importance: (1) to provide answers and appropriate care to individuals suffering from rare conditions that have eluded diagnosis, (2) to advance medical knowledge about rare diseases affecting the oral cavity, and (3) to develop and improve treatments for these diseases.
We welcome original research reports, case reports, reviews, and perspectives on the following aspects related to rare and undiagnosed hereditary disorders:
• Disorders affecting any aspect of tooth development, including tooth number, signaling, morphology, mineralization, eruption, exfoliation, or function
• Disorders affecting mineralization of enamel, dentin, cementum, and/or alveolar bone
• Disorders affecting craniofacial development or temporomandibular joint function
• Disorders affecting epithelial biology, salivary gland function, oral sensation, or pain
• Disorders affecting immune function in the context of periodontal status
• Use of dental, oral, or craniofacial manifestations as part of the diagnosis of rare disorders
• Treatments for rare diseases and their efficacy on dental, oral, and craniofacial tissues
• Descriptions of human manifestations of the above conditions or animal models of the conditions used to study aspects of pathology, mechanism, and/or treatment
Rare hereditary diseases affect an estimated 1 in 10 people. Although many of these conditions are individually rare, the total number of people affected is great. Rare disorders are difficult to diagnose and are often misdiagnosed. While progress has been made in identifying and understanding causes, pathologies, and underlying mechanisms of many rare diseases, manifestations in the dental, oral, and craniofacial tissues are frequently overlooked, underappreciated, underused in diagnosis, or not fully considered in treatment planning. This has implications on oral and overall health and quality of life of affected individuals.
The object of this interdisciplinary Research Topic is to highlight oral, dental, and craniofacial manifestations of rare and undiagnosed hereditary disorders in order to increase knowledge of these conditions among healthcare providers, dental clinicians, and scientists. When new rare disorders are recognized, it is important for affected patients to be referred to a craniofacial/dental team for clinical evaluation, the collection of both medical and dental histories and clinical data for translational studies, the monitoring of the disorder over time, and treatment by an integrated medical/dental team to optimize oral and overall health. Only through this careful approach can we accomplish three objectives of paramount importance: (1) to provide answers and appropriate care to individuals suffering from rare conditions that have eluded diagnosis, (2) to advance medical knowledge about rare diseases affecting the oral cavity, and (3) to develop and improve treatments for these diseases.
We welcome original research reports, case reports, reviews, and perspectives on the following aspects related to rare and undiagnosed hereditary disorders:
• Disorders affecting any aspect of tooth development, including tooth number, signaling, morphology, mineralization, eruption, exfoliation, or function
• Disorders affecting mineralization of enamel, dentin, cementum, and/or alveolar bone
• Disorders affecting craniofacial development or temporomandibular joint function
• Disorders affecting epithelial biology, salivary gland function, oral sensation, or pain
• Disorders affecting immune function in the context of periodontal status
• Use of dental, oral, or craniofacial manifestations as part of the diagnosis of rare disorders
• Treatments for rare diseases and their efficacy on dental, oral, and craniofacial tissues
• Descriptions of human manifestations of the above conditions or animal models of the conditions used to study aspects of pathology, mechanism, and/or treatment
