No genetic tests or other investigations are available to establish the definitive diagnosis of Ehlers-Danlos syndrome (EDS). A presumptive diagnosis can be made based on a converging set of findings, including a family history of the disease, the patient's medical history, and the physical findings. The Beighton score is currently the reference standard tool for assessing joint hypermobility, which must be present in at least 5 of 9 tested joints. However, joint hypermobility testing may be challenging, for instance in patients with pain during mobilisation and/or tight hamstring muscles. Furthermore, the Beighton score may be less than 5 in patients with other unequivocal evidence of EDS. The objective of this study was to assess the contribution of gleno-humeral abduction measurement to the diagnosis of EDS.

Gleno-humeral abduction measurement using a standardised method assists in the diagnosis of EDS.

Retrospective case-control study comparing 110 patients with known EDS (cases) to 100 controls.

Gleno-humeral abduction was significantly greater in the cases than in the controls, irrespective of age, sex, and Beighton score. Gleno-humeral abduction beyond 90° was 92.5% sensitive and 96.4% specific. Inter-examiner reproducibility of gleno-humeral abduction measurement was excellent.

Increased gleno-humeral abduction may be sufficient to demonstrate joint hypermobility and to suggest EDS in patients whose personal and family history is consistent with this diagnosis.

III, case-control study.