Literature DB >> 28145606

A framework for the classification of joint hypermobility and related conditions.

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

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. © 2017 Wiley Periodicals, Inc.

Entities:  

Keywords:  Ehlers-Danlos syndrome; classification; joint hypermobility; nosology; terminology

Mesh:

Year:  2017        PMID: 28145606     DOI: 10.1002/ajmg.c.31539

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  83 in total

Review 1.  Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review.

Authors:  Elizabeth Gilliam; Jodi D Hoffman; Gloria Yeh
Journal:  Clin Genet       Date:  2019-09-01       Impact factor: 4.438

2.  BESS/BOA patient care pathways: Atraumatic shoulder instability.

Authors:  Ali Noorani; Michael Goldring; Anju Jaggi; Jo Gibson; Jonathan Rees; Marcus Bateman; Mark Falworth; Peter Brownson
Journal:  Shoulder Elbow       Date:  2018-12-10

3.  Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome.

Authors:  Anna Maria Formenti; Mauro Doga; Stefano Frara; Marco Ritelli; Marina Colombi; Giuseppe Banfi; Andrea Giustina
Journal:  Endocrine       Date:  2018-12-15       Impact factor: 3.633

4.  Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.

Authors:  Weiyi Mu; Michael Muriello; Julia L Clemens; You Wang; Christy H Smith; Phuong T Tran; Peter C Rowe; Clair A Francomano; Antonie D Kline; Joann Bodurtha
Journal:  Am J Med Genet A       Date:  2019-01-31       Impact factor: 2.802

5.  Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective study.

Authors:  S Wasim; J S Suddaby; M Parikh; S Leylachian; B Ho; A Guerin; J So
Journal:  Rheumatol Int       Date:  2019-03-28       Impact factor: 2.631

6.  Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population.

Authors:  Jane R Schubart; Eric Schaefer; Alan J Hakim; Clair A Francomano; Rebecca Bascom
Journal:  J Pain Symptom Manage       Date:  2019-05-31       Impact factor: 3.612

Review 7.  The Ehlers-Danlos syndromes.

Authors:  Fransiska Malfait; Marco Castori; Clair A Francomano; Cecilia Giunta; Tomoki Kosho; Peter H Byers
Journal:  Nat Rev Dis Primers       Date:  2020-07-30       Impact factor: 52.329

8.  Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study.

Authors:  T Banica; M Coussens; C Verroken; P Calders; I De Wandele; F Malfait; H-G Zmierczak; S Goemaere; B Lapauw; L Rombaut
Journal:  Osteoporos Int       Date:  2019-12-24       Impact factor: 4.507

9.  Beyond bones: The relevance of variants of connective tissue (hypermobility) to fibromyalgia, ME/CFS and controversies surrounding diagnostic classification: an observational study.

Authors:  Jessica A Eccles; Beth Thompson; Kristy Themelis; Marisa L Amato; Robyn Stocks; Amy Pound; Anna-Marie Jones; Zdenka Cipinova; Lorraine Shah-Goodwin; Jean Timeyin; Charlotte R Thompson; Thomas Batty; Neil A Harrison; Hugo D Critchley; Kevin A Davies
Journal:  Clin Med (Lond)       Date:  2021-01       Impact factor: 2.659

10.  Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.

Authors:  Rebecca Bascom; Jane R Schubart; Susan Mills; Thomas Smith; Linda M Zukley; Clair A Francomano; Nazli McDonnell
Journal:  Am J Med Genet A       Date:  2019-02-01       Impact factor: 2.802

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