Joint hypermobility is a common, mostly benign, finding in the general population. In a subset of individuals, however, it causes a range of clinical problems, mainly affecting the musculoskeletal system. Joint hypermobility often appears as a familial trait and is shared by several heritable connective tissue disorders, including the hypermobility subtype of the Ehlers-Danlos syndrome (EDS-HT)...

This issue of the American Journal of Medical Genetics Seminar Series Part C is dedicated to generalized joint hypermobility (gJHM), joint hypermobility syndrome (JHS), and Ehlers-Danlos syndrome, hypermobility type (EDS-HT). gJHM is the best known clinical manifestation of inherited defects of the connective tissue. On the other side, JHS and EDS-HT are actually considered one and the same fro...

Rheumatologists have long considered that joint hypermobility is inherited. The familial aggregation is striking and the pattern of inheritance strongly points to an autosomal dominant mode. The first comprehensive description of symptomatic joint hypermobility in the rheumatological literature is attributed to Kirk, Ansell and Bywaters in 1967 [1]. They coined the term ‘hypermobility syndrome’...

The ability to place the hands to the floor forms part of the assessment of joint hypermobility. The test may be symptom free, or in the case of joint hypermobility syndrome, may be associated with pain in the spine, hip, and knee. The aim of this study was to identify the relative amount of movement at the lumbar spine and hip during this test in people with asymptomatic and symptomatic hyperm...

Anorexia nervosa (AN) is associated with gut and non-gut symptoms e.g. orthostatic intolerance and fatigue syndromes. Elsewhere, joint hypermobility has been found in non-anorexic populations who have gut symptoms, orthostatic intolerance or fatigue syndromes. We therefore postulated that joint hypermobility may be a feature of AN.Patients from an inpatient Eating Disorders Unit and their first...

Thirty-seven adults (19 male, 18 female) with mitral valve prolapse (MVP) were examined for evidence of joint hypermobility scored on a 0-9 scale. None of the patients had hypermobility scores exceeding 3, and comparison with 37 healthy age and sex matched controls recruited from hospital staff failed to show an increased prevalence of hypermobility in MVP. There was no evidence that the MVP sy...

Hand dysfunction is commonly linked to ligamentous laxity (Murray 2006). The carpometacarpal joint (CMCJ) of the thumb may be particularly susceptible to weakened ligamentous constraints in the Ehlers-Danlos syndrome (Moore et al 1985). Symptoms may only present if the joint has been subject to excessive trauma, overuse or misuse and thus strains of the surrounding muscles and ligaments may hav...

Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility. Pediatricians and allied professionals should be well aware of the characteristics of the different syndromes associated with hypermobility and facilitate early recognition and appropriate management. In this review we...