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 language | English (US) |
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Pages (from-to) | 148-157 |
Number of pages | 10 |
Journal | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics |
Volume | 175 |
Issue number | 1 |
DOIs | |
State | Published - Mar 1 2017 |
Keywords
- Ehlers–Danlos syndrome
- classification
- joint hypermobility
- nosology
- terminology
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)