The Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility (GJH). It was originally developed as an epidemiological tool used in screening large populations for GJH, but later adopted as a clinical tool for diagnostic purposes. Its ability to truly reflect GJH remains controversial, as joints within the scoring system are predominantly of the upper limb and disregard many of the major joints, preventing a direct identification of GJH. Furthermore, a consistent finding in the literature whereby the BS failed to identify hypermobility in joints outside the scoring system suggests its use as an indirect indicator of GJH is also not viable. As such, the collective findings of this review demonstrate a need for a change in clinical thinking. The BS should not be used as the principle tool to differentiate between localised and generalised hypermobility, nor used alone to exclude the presence of GJH. Greater emphasis should be placed on a clinician’s judgement to identify or exclude GJH, according to its full definition.

The Ehlers-Danlos syndromes (EDS) are a group of 13 disorders, clinically defined through features of joint hypermobility, skin hyperextensibility, and tissue fragility. Most subtypes are caused by mutations in genes affecting the structure or processing of the extracellular matrix (ECM) protein collagen. The Hypermobility Spectrum Disorders (HSDs) are clinically indistinguishable disorders, but are considered to lack a genetic basis. The pathogenesis of all these disorders, however, remains poorly understood. Genotype-phenotype correlations are limited, and findings of aberrant collagen fibrils are inconsistent and associate poorly with the subtype and severity of the disorder. The defective ECM, however, also has consequences for cellular processes. EDS/HSD fibroblasts exhibit a dysfunctional phenotype including impairments in cell adhesion and cytoskeleton organization, though the pathological significance of this has remained unclear. Recent advances in our understanding of fibroblast mechanobiology suggest these changes may actually reflect features of a pathomechanism we herein define. This review departs from the traditional view of EDS/HSD, where pathogenesis is mediated by the structurally defective ECM. Instead, we propose EDS/HSD may be a disorder of membrane-bound collagen, and consider how aberrations in cell adhesion and cytoskeleton dynamics could drive the abnormal properties of the connective tissue, and be responsible for the pathogenesis of EDS/HSD.