A framework for the classification of joint hypermobility and related conditions. Issue 1 (1st February 2017)

• Record Type: Journal Article
• Authors: Castori, Marco; Tinkle, Brad; Levy, Howard; Grahame, Rodney; Malfait, Fransiska; Hakim, Alan
• Other Names: Tinkle Brad T. guestEditor.; Malfait Fransiska guestEditor.; Francomano Clair A. guestEditor.; Byers Peter H. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 175:Issue 1(2017)
• Page Start: 148
• Page End: 157
• Publication Date: 2017-02-01
• Subjects: classification -- Ehlers–Danlos syndrome -- joint hypermobility -- nosology -- terminology; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31539
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract : In the last decade, growing attention has been placed on joint hypermobility and related disorders. The new nosology for Ehlers–Danlos syndrome (EDS), the best‐known and probably the most common of the disorders featuring joint hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS hypermobility type and joint hypermobility syndrome. Joint hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non‐medical disciplines. In this paper, the terminology of joint hypermobility and related disorders is summarized. Different types of joint hypermobility, its secondary musculoskeletal manifestations and a simplified categorization of genetic syndromes featuring joint hypermobility are presented. The concept of a spectrum of pathogenetically related manifestations of joint hypermobility intersecting the categories of pleiotropic syndromes with joint hypermobility is introduced. A group of hypermobility spectrum disorders is proposed as diagnostic labels for patients with symptomatic joint hypermobility but not corresponding to any other syndromes with joint hypermobility. © 2017 Wiley Periodicals, Inc.