Abstract
The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions. This is the 9th edition of the nosology and in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable but genetically heterogenous were listed separately but we felt this was an unnecessary distinction. Thus the overall number of disorders has decreased from 456 to 436 but the number of groups has increased to 42 and the number of genes to 364. The nosology may become increasingly important today and tomorrow in the era of big data when the question for the geneticist is often whether a mutation identified by next generation sequencing technology in a particular gene can explain the clinical and radiological phenotype of their patient. This can be particularly difficult to answer conclusively in the prenatal setting. Personalized medicine emphasizes the importance of tailoring diagnosis and therapy to the individual but for our patients with rare skeletal disorders, the importance of tapping into a resource where genetic data can be centralized and made available should not be forgotten or underestimated. The nosology can also serve as a reference for the creation of locus-specific databases that are expected to help in delineating genotype-phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.
Highlights
In the 1960s, accumulating evidence that genetic skeletal disorders were clinically and genetically heterogeneous prompted a group of international experts to prepare a document to reach an agreement on the nomenclature of what was called ‘‘constitutional disorders of bone’’ [1970, 1971a,b,c,d; McKusick and Scott, 1971]
The assignment of individual disorders into groups has been practiced since the first versions of the ‘‘Nomenclature.’’ At that time, with little biochemical or molecular information available, the grouping of disorders reflected the belief that disorders with similar phenotypic features might be caused by disturbances in related metabolic pathways or gene networks
This notion has been confirmed by the identification of biochemically related groups, such as those of mineralization disorders or lysosomal disorders, and of genetic families such as the collagen 2 family, the FGFR3 family, and the DTDST family
Summary
In the 1960s, accumulating evidence that genetic skeletal disorders were clinically and genetically heterogeneous prompted a group of international experts to prepare a document to reach an agreement on the nomenclature of what was called ‘‘constitutional (or intrinsic) disorders of bone’’ [1970, 1971a,b,c,d; McKusick and Scott, 1971]. The ‘‘Nomenclature’’ was meant to bring together experts in radiology, clinical genetics, and pediatrics to agree on the denomination and classification of skeletal disorders, syndromes and metabolic diseases that were being newly described. Following the establishment of the International Skeletal Dysplasia Society (ISDS) in 1999, and to cope with the increasing complexity of information, revisions of the Nosology have been delegated to an expert group nominated ad hoc within the ISDS to ensure an adequate representation of clinical, radiological and molecular expertise (2001 and 2006 revisions) [Hall, 2002; Superti-Furga and Unger, 2007]
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