Year: 2011
Type: article
Abstract: Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to "private" found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology.
DOI: 10.1002/ajmg.a.33909
Authors: Matthew L. Warman, Valerie Cormier‐Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen Robertson, Ravi Savarirayan, David Sillence, Juergen Spranger, Sheila Unger, Bernhard Zabel, Andrea Superti‐Furga
Institutions: Boston Children's Hospital, Howard Hughes Medical Institute, Orthopaedic Research Laboratories, Hôpital Necker-Enfants Malades, Inserm, Université Paris Descartes, University of London, Cedars-Sinai Medical Center, University of California, Los Angeles, University of Antwerp, Antwerp University Hospital, Max Planck Society, Max Planck Institute for Molecular Genetics, Charité – Universitätsmedizin Berlin, Tokyo Metropolitan Children's Medical Center, University of Otago, Royal Children's Hospital, The University of Melbourne, Murdoch Children's Research Institute, The University of Sydney, Children's Hospital at Westmead, University of Freiburg, University Medical Center Freiburg, Centre Hospitalier Universitaire Vaudois, University of Lausanne
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2016499348