Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

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 recogn...

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Main Authors:	Warman, Matthew L, Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea
Format:	Online
Language:	English
Published:	Wiley Subscription Services, Inc., A Wiley Company 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781/

id	pubmed-3166781
recordtype	oai_dc
spelling	pubmed-31667812011-11-01 Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision Warman, Matthew L Cormier-Daire, Valerie Hall, Christine Krakow, Deborah Lachman, Ralph LeMerrer, Martine Mortier, Geert Mundlos, Stefan Nishimura, Gen Rimoin, David L Robertson, Stephen Savarirayan, Ravi Sillence, David Spranger, Juergen Unger, Sheila Zabel, Bernhard Superti-Furga, Andrea Research Articles 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. Wiley Subscription Services, Inc., A Wiley Company 2011-05 2011-03-15 /pmc/articles/PMC3166781/ /pubmed/21438135 http://dx.doi.org/10.1002/ajmg.a.33909 Text en Copyright © 2011 Wiley-Liss, Inc. http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Warman, Matthew L Cormier-Daire, Valerie Hall, Christine Krakow, Deborah Lachman, Ralph LeMerrer, Martine Mortier, Geert Mundlos, Stefan Nishimura, Gen Rimoin, David L Robertson, Stephen Savarirayan, Ravi Sillence, David Spranger, Juergen Unger, Sheila Zabel, Bernhard Superti-Furga, Andrea
spellingShingle	Warman, Matthew L Cormier-Daire, Valerie Hall, Christine Krakow, Deborah Lachman, Ralph LeMerrer, Martine Mortier, Geert Mundlos, Stefan Nishimura, Gen Rimoin, David L Robertson, Stephen Savarirayan, Ravi Sillence, David Spranger, Juergen Unger, Sheila Zabel, Bernhard Superti-Furga, Andrea Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
author_facet	Warman, Matthew L Cormier-Daire, Valerie Hall, Christine Krakow, Deborah Lachman, Ralph LeMerrer, Martine Mortier, Geert Mundlos, Stefan Nishimura, Gen Rimoin, David L Robertson, Stephen Savarirayan, Ravi Sillence, David Spranger, Juergen Unger, Sheila Zabel, Bernhard Superti-Furga, Andrea
author_sort	Warman, Matthew L
title	Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
title_short	Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
title_full	Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
title_fullStr	Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
title_full_unstemmed	Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
title_sort	nosology and classification of genetic skeletal disorders: 2010 revision
description	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.
publisher	Wiley Subscription Services, Inc., A Wiley Company
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781/
_version_	1611473647106523136

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

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