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Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21.

Nosology and classification of genetic skeletal disorders: 2019 revision.

Author information

1
Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
2
Department of Molecular, Cell and Developmental Biology and Department of Orthopaedic Surgery, University of California at Los Angeles, Los Angeles, California.
3
IMAGINE Institute, Hôpital Necker Enfants Malades, Paris, France.
4
Department of Radiology, Great Ormond Street Hospital, London, UK.
5
Department of Obstetrics and Gynecology and Department of Orthopaedic Surgery and Human Genetics, University of California at Los Angeles, Los Angeles, California.
6
Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
7
Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
8
Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.
9
Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute, Bologna, Italy.
10
Murdoch Childrens Research Institute and University of Melbourne, Parkville, Victoria, Australia.
11
Discipline of Genomic Medicine, the Children's Hospital at Westmead, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
12
Medical Genetics Service, CHUV, University of Lausanne, Lausanne, Switzerland.
13
Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.

Abstract

The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also resulted in the delineation of new clinical entities and the identification of genes and pathways that had not previously been associated with skeletal disorders. These rapid advances have prompted the Nosology Committee of the International Skeletal Dysplasia Society to revise and update the last (2015) version of the Nosology and Classification of Genetic Skeletal Disorders. This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes. Remarkably, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders. By providing a reference list of recognized entities and their causal genes, the Nosology should help clinicians achieve accurate diagnoses for their patients and help scientists advance research in skeletal biology.

KEYWORDS:

Nosology; dysostoses; skeletal dysplasias; skeletal genetics; skeletal malformation syndromes

PMID:
31633310
DOI:
10.1002/ajmg.a.61366

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