Nosology of genetic skeletal disorders: 2023 revision

doi:10.1002/ajmg.a.63132

. 2023 May;191(5):1164-1209.

doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger¹, Carlos R Ferreira², Geert R Mortier³, Houda Ali⁴, Débora R Bertola^{5

6}, Alistair Calder⁷, Daniel H Cohn^{8

9}, Valerie Cormier-Daire¹⁰, Katta M Girisha¹¹, Christine Hall¹², Deborah Krakow¹³, Outi Makitie^{14

15}, Stefan Mundlos¹⁶, Gen Nishimura¹⁷, Stephen P Robertson¹⁸, Ravi Savarirayan¹⁹, David Sillence²⁰, Marleen Simon²¹, V Reid Sutton²², Matthew L Warman^{23

24}, Andrea Superti-Furga¹

Affiliations

¹ Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
² Skeletal Genomics Unit, Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
³ Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.
⁴ INSERM, US14-Orphanet, Paris, France.
⁵ Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
⁶ Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
⁷ Radiology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
⁸ Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California, USA.
⁹ Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, California, USA.
¹⁰ Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
¹¹ Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
¹² Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital, London, UK.
¹³ Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
¹⁴ Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
¹⁵ Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
¹⁶ Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁷ Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
¹⁸ Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
¹⁹ Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.
²⁰ Specialities of Genomic Medicine and Paediatrics and Adolescent Health, Sydney University Clinical School, Children's Hospital, Westmead, NSW, Australia.
²¹ Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
²² Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston, Texas, USA.
²³ Department of Orthopedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
²⁴ Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

PMID: 36779427
PMCID: PMC10081954
DOI: 10.1002/ajmg.a.63132

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger et al. Am J Med Genet A. 2023 May.

. 2023 May;191(5):1164-1209.

doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13.

Authors

Affiliations

¹ Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
² Skeletal Genomics Unit, Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
³ Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.
⁴ INSERM, US14-Orphanet, Paris, France.
⁵ Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
⁶ Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
⁷ Radiology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
⁸ Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California, USA.
⁹ Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, California, USA.
¹⁰ Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
¹¹ Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
¹² Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital, London, UK.
¹³ Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
¹⁴ Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
¹⁵ Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
¹⁶ Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁷ Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
¹⁸ Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
¹⁹ Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.
²⁰ Specialities of Genomic Medicine and Paediatrics and Adolescent Health, Sydney University Clinical School, Children's Hospital, Westmead, NSW, Australia.
²¹ Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
²² Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston, Texas, USA.
²³ Department of Orthopedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
²⁴ Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

PMID: 36779427
PMCID: PMC10081954
DOI: 10.1002/ajmg.a.63132

Abstract

The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine.

© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

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References

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1. Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, & Unger S (2015). Nosology and classification of genetic skeletal disorders: 2015 revision. American Journal of Medical Genetics. Part A, 167A(12), 2869–2892. 10.1002/ajmg.a.37365 - DOI - PubMed
1. Ferreira CR, Rahman S, Keller M, Zschocke J, & ICIMD Advisory Group. (2021). An international classification of inherited metabolic disorders (ICIMD). Journal of Inherited Metabolic Disease, 44(1), 164–177. 10.1002/jimd.12348 - DOI - PMC - PubMed

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[1] A nomenclature for constitutional (intrinsic) diseases of bones. (1971). The Journal of Pediatrics, 78(1), 177–179. 10.1016/s0022-3476(71)80286-x - DOI - PubMed

[2] A nomenclature for constitutional (intrinsic) diseases of bones. (1971). The Journal of Pediatrics, 78(1), 177–179. 10.1016/s0022-3476(71)80286-x - DOI - PubMed

[3] Beighton P, Giedion ZA, Gorlin R, Hall J, Horton B, Kozlowski K, Lachman R, Langer LO, Maroteaux P, & Poznanski A (1992). International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone. American Journal of Medical Genetics, 44(2), 223–229. 10.1002/ajmg.1320440220 - DOI - PubMed

[4] Beighton P, Giedion ZA, Gorlin R, Hall J, Horton B, Kozlowski K, Lachman R, Langer LO, Maroteaux P, & Poznanski A (1992). International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone. American Journal of Medical Genetics, 44(2), 223–229. 10.1002/ajmg.1320440220 - DOI - PubMed

[5] Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, … Zarate YA (2021). A dyadic approach to the delineation of diagnostic entities in clinical genomics. American Journal of Human Genetics, 108(1), 8–15. 10.1016/j.ajhg.2020.11.013 - DOI - PMC - PubMed

[6] Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, … Zarate YA (2021). A dyadic approach to the delineation of diagnostic entities in clinical genomics. American Journal of Human Genetics, 108(1), 8–15. 10.1016/j.ajhg.2020.11.013 - DOI - PMC - PubMed

[7] Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, & Unger S (2015). Nosology and classification of genetic skeletal disorders: 2015 revision. American Journal of Medical Genetics. Part A, 167A(12), 2869–2892. 10.1002/ajmg.a.37365 - DOI - PubMed

[8] Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, & Unger S (2015). Nosology and classification of genetic skeletal disorders: 2015 revision. American Journal of Medical Genetics. Part A, 167A(12), 2869–2892. 10.1002/ajmg.a.37365 - DOI - PubMed

[9] Ferreira CR, Rahman S, Keller M, Zschocke J, & ICIMD Advisory Group. (2021). An international classification of inherited metabolic disorders (ICIMD). Journal of Inherited Metabolic Disease, 44(1), 164–177. 10.1002/jimd.12348 - DOI - PMC - PubMed

[10] Ferreira CR, Rahman S, Keller M, Zschocke J, & ICIMD Advisory Group. (2021). An international classification of inherited metabolic disorders (ICIMD). Journal of Inherited Metabolic Disease, 44(1), 164–177. 10.1002/jimd.12348 - DOI - PMC - PubMed

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Nosology of genetic skeletal disorders: 2023 revision

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Nosology of genetic skeletal disorders: 2023 revision

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