title: Nosology and classification of genetic skeletal disorders: 2010 revision.
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.
authors: Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.
authors: Matthew L
authors: ML
authors: Warman
authors: Valerie
authors: V
authors: Cormier-Daire
authors: Christine
authors: C
authors: Hall
authors: Deborah
authors: D
authors: Krakow
authors: Ralph
authors: R
authors: Lachman
authors: Martine
authors: M
authors: LeMerrer
authors: Geert
authors: G
authors: Mortier
authors: Stefan
authors: S
authors: Mundlos
authors: Gen
authors: G
authors: Nishimura
authors: David L
authors: DL
authors: Rimoin
authors: Stephen
authors: S
authors: Robertson
authors: Ravi
authors: R
authors: Savarirayan
authors: David
authors: D
authors: Sillence
authors: Juergen
authors: J
authors: Spranger
authors: Sheila
authors: S
authors: Unger
authors: Bernhard
authors: B
authors: Zabel
authors: Andrea
authors: A
authors: Superti-Furga
mesh_terms: D001847:Bone Diseases / Q000145:classification*; D030342:Genetic Diseases, Inborn / Q000145:classification*; D006801:Humans; D009154:Mutation