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Joint hypermobility syndrome

INTRODUCTION

The joint hypermobility syndrome (JHS) is the most common disorder among the hereditary disorders of connective tissue (HDCT), a group of conditions that include JHS, the Ehlers-Danlos syndromes (EDS), Marfan syndrome, osteogenesis imperfecta, and Stickler syndrome. Joint hypermobility (JHM) may be of no medical consequence and might even confer advantages for dancers, musicians, and athletes; however, it may also be associated with a number of comorbidities that constitute the cardinal features of the HDCT.

JHS is considered by many experts to be indistinguishable from, if not identical to, the most common variant of Ehlers-Danlos syndrome (EDS), EDS-hypermobility type (EDS-HM). (See 'Epidemiology' below.)

JHS is reviewed here. Overviews of the clinical manifestations, diagnosis, and management of the Ehlers-Danlos syndromes; the clinical manifestations and treatment of the Marfan syndrome; osteogenesis imperfecta; and the Stickler syndrome are presented separately. (See "Clinical manifestations and diagnosis of Ehlers-Danlos syndromes" and "Overview of the management of Ehlers-Danlos syndromes" and "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders" and "Osteogenesis imperfecta: Clinical features and diagnosis" and "Osteogenesis imperfecta: Management and prognosis" and "Syndromes with craniofacial abnormalities", section on 'Stickler and Marshall syndromes'.)

EPIDEMIOLOGY

Joint hypermobility syndrome (JHS) is very common in musculoskeletal disease clinics, but the diagnosis is often missed, and the actual prevalence of JHS is not known [1,2]. In one large survey in the UK, the combination of joint hypermobility (JHM) and chronic widespread pain, which is typical of many patients with JHS, was found in 3 percent of a general population [3]. There has been a lack of general population studies or other studies of sufficient sample size to accurately estimate the prevalence of JHS [4].

JHS is considered by many experts in rheumatology and in clinical genetics to be indistinguishable from, if not identical to, the most common variant of Ehlers-Danlos syndrome (EDS), EDS-hypermobility type (EDS-HM), but the precise relationship between EDS-HM and JHS remains uncertain [5]. (See "Clinical manifestations and diagnosis of Ehlers-Danlos syndromes".)

                   

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Literature review current through: Jun 2014. | This topic last updated: Jul 10, 2014.
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