• Open Access

Nosology and classification of genetic skeletal disorders: 2010 revision

Authors

  • Matthew L. Warman,

    1. Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts
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  • Valerie Cormier-Daire,

    1. Department of Genetics and INSERM U781, Paris Descartes University, Hôpital Necker Enfants Malades, Paris, France
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  • Christine Hall,

    1. Institute of Child Health, University of London, London, UK
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  • Deborah Krakow,

    1. Medical Genetics Institute, Steven Spielberg Building, Cedars-Sinai Medical Center, Los Angeles, California
    2. Departments of Orthopaedic Surgery and Human Genetics, UCLA, Los Angeles, California
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  • Ralph Lachman,

    1. Medical Genetics Institute, Steven Spielberg Building, Cedars-Sinai Medical Center, Los Angeles, California
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  • Martine LeMerrer,

    1. Department of Genetics and INSERM U781, Paris Descartes University, Hôpital Necker Enfants Malades, Paris, France
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  • Geert Mortier,

    1. Department of Medical Genetics, University Hospital of Antwerp, University of Antwerp, Edegem, Belgium
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  • Stefan Mundlos,

    1. Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Max-Planck-Institut für Molekulare Genetik, Berlin, Germany
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  • Gen Nishimura,

    1. Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan
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  • David L. Rimoin,

    1. Medical Genetics Institute, Steven Spielberg Building, Cedars-Sinai Medical Center, Los Angeles, California
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  • Stephen Robertson,

    1. Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
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  • Ravi Savarirayan,

    1. Murdoch Children's Research Institute, Royal Children's Hospital, Department of Paediatrics, University of Melbourne, Victoria, Australia
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  • David Sillence,

    1. Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, The University of Sydney, Westmead, Australia
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  • Juergen Spranger,

    1. Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany
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  • Sheila Unger,

    1. Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany
    2. Medical Genetics Service, University of Lausanne, CHUV—Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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  • Bernhard Zabel,

    1. Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany
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  • Andrea Superti-Furga

    Corresponding author
    1. Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany
    2. Department of Pediatrics, University of Lausanne, CHUV—Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    • Centre Hospitalier Universitaire Vaudois (CHUV), Av. Decker, 2, 1011 Lausanne, Switzerland.
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  • 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).

  • 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.

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. © 2011 Wiley-Liss, Inc.

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