A framework for the classification of joint hypermobility and related conditions

Marco Castori, Brad Tinkle, Howard Levy, Rodney Grahame, Fransiska Malfait, Alan Hakim

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)148-157
Number of pages10
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume175
Issue number1
DOIs
StatePublished - Mar 1 2017

Keywords

  • Ehlers–Danlos syndrome
  • classification
  • joint hypermobility
  • nosology
  • terminology

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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