The 9th ISDS meeting and the Nosology workshop were held in Boston in July 2009 and supported by The Manton Center for Orphan Disease Research, Children's Hospital, Boston, Massachusetts; Children's Orthopaedic Surgery Foundation, Inc., Boston, Massachusetts; The Osteogenesis Imperfecta Foundation, Gaithersburg, Maryland; Biomarin, Novato, California; and Enobia Pharma, Montreal, Quebec, Canada. The 2010 Nosology tables are available online at the International Skeletal Dysplasia Society web site (www.isds.ch).
Article first published online: 15 MAR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 5, pages 943–968, May 2011
How to Cite
Warman, M. L., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., LeMerrer, M., Mortier, G., Mundlos, S., Nishimura, G., Rimoin, D. L., Robertson, S., Savarirayan, R., Sillence, D., Spranger, J., Unger, S., Zabel, B. and Superti-Furga, A. (2011), Nosology and classification of genetic skeletal disorders: 2010 revision . Am. J. Med. Genet., 155: 943–968. doi: 10.1002/ajmg.a.33909
How to Cite this Article: Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. 2011. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet Part A 155:943–968.
- Issue published online: 19 APR 2011
- Article first published online: 15 MAR 2011
- Manuscript Accepted: 30 DEC 2010
- Manuscript Received: 16 DEC 2010
- skeletal genetics;
- molecular basis of disease
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. © 2011 Wiley-Liss, Inc.