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Open Access Highly Accessed Review

The differential diagnosis of children with joint hypermobility: a review of the literature

Louise J Tofts1234*, Elizabeth J Elliott456, Craig Munns147, Verity Pacey1348 and David O Sillence149

Author Affiliations

1 The Connective Tissue Dysplasia Clinic, The Children's Hospital at Westmead, Sydney, NSW, Australia

2 Children's Hospital Institute of Sports Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia

3 Rehabilitation Department, The Children's Hospital at Westmead, Sydney, NSW, Australia

4 Discipline of Paediatrics and Child Health, University of Sydney, NSW, Australia

5 Division of Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia

6 Australian Paediatric Surveillance Unit, The Children's Hospital at Westmead, Sydney, NSW, Australia

7 Department of Endocrinology, The Children's Hospital at Westmead, Sydney, NSW, Australia

8 Physiotherapy Department, The Children's Hospital at Westmead, Sydney, NSW, Australia

9 Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia

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Pediatric Rheumatology 2009, 7:1  doi:10.1186/1546-0096-7-1

Published: 5 January 2009

Abstract

Background

In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related symptoms.

Methods

We searched Medline for papers with an emphasis on the diagnosis of joint hypermobility, including Heritable Disorders of Connective Tissue (HDCT).

Results

3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility.

There are inconsistencies in the literature on joint hypermobility and how it relates to and overlaps with milder forms of HDCT. There is no reliable method of differentiating between Joint Hypermobility Syndrome, familial articular hypermobility and Ehlers-Danlos syndrome (hypermobile type), suggesting these three disorders may be different manifestations of the same spectrum of disorders. We describe our approach to children presenting with joint hypermobility and the published evidence and expert opinion on which this is based.

Conclusion

There is value in identifying both the underlying genetic cause of joint hypermobility in an individual child and those hypermobile children who have symptoms such as pain and fatigue and might benefit from multidisciplinary rehabilitation management.

Every effort should be made to diagnose the underlying disorder responsible for joint hypermobility which may only become apparent over time. We recommend that the term "Joint Hypermobility Syndrome" is used for children with symptomatic joint hypermobility resulting from any underlying HDCT and that these children are best described using both the term Joint Hypermobility Syndrome and their HDCT diagnosis.