Louise Jane Tofts, Jane Simmonds, Sarah B Schwartz, Roberto M Richheimer, Constance O'Connor, Ellen Elias, Raoul Engelbert, Katie Cleary, Brad T Tinkle, Antonie D Kline, Alan J Hakim, Marion A J van Rossum, Verity Pacey
BACKGROUND: Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are debilitating conditions. Diagnosis is currently clinical in the absence of biomarkers, and criteria developed for adults are difficult to use in children and biologically immature adolescents. Generalized joint hypermobility (GJH) is a prerequisite for hEDS and generalized HSD. Current literature identifies a large proportion of children as hypermobile using a Beighton score ≥ 4 or 5/9, the cut off for GJH in adults...
May 4, 2023: Orphanet Journal of Rare Diseases