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Rheumatology Advance Access originally published online on January 17, 2006
Rheumatology 2006 45(5):502-507; doi:10.1093/rheumatology/kei268
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© The Author 2006. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

REVIEW

The genetic basis of the joint hypermobility syndromes

F. Malfait, A. J. Hakim1, A. De Paepe and R. Grahame1

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium and 1 Centre for Rheumatology, University College Hospital, London W1T 4NJ, UK.

Correspondence to: R. Grahame, Centre for Rheumatology, University College Hospital, London W1T 4NJ, UK. E-mail: rodneygrahame@aol.com

The first 150 words of the full text of this article appear below.


   Introduction
 
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’ (HMS). Later, the recognition of the relatively benign prognosis of the HMS in terms of life-threatening complications led to the use of the term ‘benign joint hypermobility syndrome’ (BJHS) or latterly, the ‘joint hypermobility syndrome’ (JHS).

Early workers believed that joint hypermobility merely represented the upper end of a Gaussian distribution of the range of normal physiological movement [2]. Later it became apparent that connective tissues other than joints, such as skin, bone and eye, participated in the connective tissue fragility seen in JHS. These clinical signs of connective tissue fragility are . . . [Full Text of this Article]


   Classification of disease
 

   The genetics of the HDCTs
 

   Other candidate genes
 

   Guidance for diagnostic biochemical and molecular testing in patients with joint hypermobility
 

   Summary
 

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