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’...

OBJECTIVE Benign joint hypermobility syndrome refers to hypermobile individuals with musculoskeletal symptoms in the absence of any systemic rheumatic disease; its prevalence is approximately 0.5%. In animal studies, bilirubin has been shown to reduce fibrosis induced by bleomycin. It has been suggested that bilirubin leads to hypermobility that affects the structure or function of collagen. In...

Joint hypermobility syndrome is a common clinical entity which is much misunderstood, overlooked, misdiagnosed and mistreated. It was first described in the 1960s as a purely musculoskeletal condition due to joint laxity and hypermobility occurring in otherwise healthy individuals. Some four decades later it is now perceived to be a multi-systemic heritable disorder of connective tissue with ma...

Introduction: The objective is to evaluate the presence and clinical relevance of the Joint Hypermobility Syndrome (JHS) among patients with schizophrenia. Methods: One hundred and twenty four outpatients with DSM-IV diagnosis of schizophrenia were assessed by means of the following: Hospital del Mar criteria for joint Hypermobility (JHdMar), Positive and Negative Syndrome Scale (PANSS), Fear S...

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)...

INTRODUCTION Generalized joint hypermobility is deemed to be an underlying risk factor for many clinical conditions. The goal of this study was to determine the prevalence of generalized joint hypermobility in patients with vesicoureteral reflux. MATERIALS AND METHODS This was a cross-sectional study on 313 children, 3 to 15 years old, with a history of urinary tract infection. Generalized jo...

Much interest has been focused on generalized joint hypermobility in recent years with particular reference to its possible adverse sequelae. Though a feature of many hereditary disorders of connective tissue (listed in Table I), generalized joint laxity may occur apparently in the absence ofother abnormalities and probably represents the upper end of a spectrum of the range of normal joint mob...