A Framework for the Classification of Joint Hypermobility and Related Conditions

作者：Castori Marco^*; Tinkle Brad; Levy Howard; Grahame Rodney; Malfait Fransiska; Hakim Alan

来源：American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 2017, 175(1): 148-157.

DOI：10.1002/ajmg.c.31539

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

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.

• 出版日期2017-3