Abstract
The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also resulted in the delineation of new clinical entities and the identification of genes and pathways that had not previously been associated with skeletal disorders. These rapid advances have prompted the Nosology Committee of the International Skeletal Dysplasia Society to revise and update the last (2015) version of the Nosology and Classification of Genetic Skeletal Disorders. This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes. Remarkably, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders. By providing a reference list of recognized entities and their causal genes, the Nosology should help clinicians achieve accurate diagnoses for their patients and help scientists advance research in skeletal biology.
Highlights
Fifty years ago, in 1969, an international team of experts in radiology, orthopedic surgery, pediatrics and genetics convened in Paris to develop an International Nomenclature of Constitutional Diseases of Bone (1970; 1971a; 1971b; McKusick & Scott, 1971)
The goal was to reach an agreement on the nomenclature of several genetic skeletal disorders that were reported since the early sixties
After the establishment of the International Skeletal Dysplasia Society (ISDS) in 1999, revisions of the Nomenclature (Nosology) were delegated to an expert committee nominated within the ISDS and representing a good mix of clinical, radiological and genetics expertise
Summary
In 1969, an international team of experts in radiology, orthopedic surgery, pediatrics and genetics convened in Paris to develop an International Nomenclature of Constitutional Diseases of Bone (1970; 1971a; 1971b; McKusick & Scott, 1971). The goal was to reach an agreement on the nomenclature of several genetic skeletal disorders that were reported since the early sixties. There was growing evidence that genetic skeletal disorders were more heterogeneous than previously thought. After the establishment of the International Skeletal Dysplasia Society (ISDS) in 1999, revisions of the Nomenclature (Nosology) were delegated to an expert committee nominated within the ISDS and representing a good mix of clinical, radiological and genetics expertise. We provide the 2019 revision and 10th edition of the Nosology and Classification of Genetic Skeletal Disorders
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