ESPEYB20 3. Bone, Growth Plate and Mineral Metabolism Advances in Clinical Practice (8 abstracts)
3.8. Nosology of genetic skeletal disorders: 2023 revision
Unger S , Ferreira CR , Mortier GR , Ali H , Bertola DR , Calder A , Cohn DH , Cormier-Daire V , Girisha KM , Hall C , Krakow D , Mäkitie O , Mundlos S , Nishimura G , Robertson SP , Savarirayan R , Sillence D , Simon M , Sutton VR , Warman ML & Superti-Furga A
Am J Med Genet A. 2023 May;191(5):1164–1209. doi: 10.1002/ajmg.a.63132. PMID: 36779427. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63132
In Brief: The 11th edition of the ‘Nosology’ is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.
Commentary: The first Nosology of genetic skeletal disorders was published in 1970 with the aim of establishing a unified naming system for the growing number and variety of skeletal phenotypes with a genetic basis. This was driven by a surge in disease identification and description in the 1960s, with distinct skeletal disorders such as diastrophic dysplasia, spondylo-epiphyseal dysplasia congenita, and ‘pseudo-Morquio’ disorders being identified. The role of radiology in distinguishing these disorders was crucial, and differentiation was based on radiographic features and the recognition of a gene’s radiographic signature in phenotypically distinct disorders.
Since the 1980s, updates of the Nosology incorporated increasing molecular criteria, with the discovery of genetic variants in collagen 1 in osteogenesis imperfecta being a pivotal development. This led to the concept of ‘bone dysplasia families,’ which are disorders originating from different pathogenic variants in a single gene, with COL2A1- and FGFR3-related skeletal dysplasia being early and prominent examples.
The Nosology, now in its 11th edition, has dramatically expanded and contains 771 conditions associated with 552 genes. However, the most significant change from previous versions is that it has adopted the dyadic naming system, which means that disorders now are defined based on a combination of their phenotypic and genetic features. Each disorder is now named by the combination (dyad) of an altered gene and specific phenotype. For example, achondroplasia is now named ‘FGFR3-related achondroplasia’, and spondyloepiphyseal dysplasia congenita is now ‘COL2A1-related spondyloepiphyseal dysplasia’.
Despite the inherent complexity and limitations in classification, the Nosology remains a critical tool for diagnosing and communicating about genetic skeletal disorders and therefore an important tool for paediatric endocrinologists.
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ESPE Yearbook of Paediatric Endocrinology
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