Version May 2024
| Term | Abbreviation | Description |
| Joint hypermobility | JHM | JHM refers to the finding that a joint is more flexible (able to move through a wider range) than is normal among the general population. It may be applied to a single, several, or multiple joints. JHM is of itself benign in the absence of symptoms such as ease of soft tissue injury, pain, ease of dislocation, or related findings. It is considered a heritable benign trait. JHM is a principal sign in many hereditary disorders of connective tissue (HDCT). |
| Joint hypermobility syndrome | JHS | Prior to the 2017 International Criteria[1], the term JHS was used to describe the findings of a person who met the Brighton Criteria for Joint Hypermobility Syndrome. The criteria included the presence of JHM, pain, spinal and peripheral joint injuries, skin signs, and other features of body habitus. Since 2017, these have been incorporated in the criteria for hypermobile Ehlers-Danlos syndrome (hEDS; refer to below). |
| Hypermobility spectrum disorder* | HSD | HSD is the term used to describe symptomatic JHM in the absence of any form of EDS or other HDCT. The joint involvement can be single, pauci and regional, or generalized. Like EDS, HSD can be associated with comorbidities such as autonomic dysfunction, anxiety disorder, and other features. |
| Ehlers-Danlos syndromes¶ | EDS | EDS are a group of inherited conditions that affect connective tissues that provide support in skin, tendons, ligaments, blood vessels, internal organs, and bones. There are 14 variants of EDS defined by criteria that include phenotypes general to the EDS family and specific to particular variants. 13 of the 14 types (ie, excluding hEDS) are rare and known to be associated with genetic abnormalities that lead to changes in the structure or function of collagen and allied structural proteins. |
| Hypermobile Ehlers-Danlos syndrome* | hEDS | hEDS is considered much more common than the other types of EDS. There are no known genetic markers for hEDS. It is defined within the 2017 International Criteria; its phenotype includes general features of the EDS family, in a form that is less extreme (eg, milder skin stretch and scarring) but is nevertheless associated with significant symptoms. hEDS is associated with a number of comorbidities that are not part of the criteria such as gastrointestinal dysfunction, autonomic dysfunction, and others. |
| Hereditary disorders of connective tissue | HDCT | HDCT are a heterogenous group of genetic conditions caused by defects of structural proteins such as collagen, fibrin, elastin, and related biomolecules. For many, the genetic cause has been elucidated. Many share features that overlap, but also have specific signs and pathologies within their phenotype that define them; these pathologies are attributable to specific gene mutations. Examples include EDS, Marfan syndrome, Loeys-Dietz syndrome, osteogenesis imperfecta, and Stickler syndrome. |
* Refer to the UpToDate topic review on hEDS and HSD for a more detailed discussion of these conditions.
¶ Refer to the UpToDate topic review on the clinical manifestations and diagnosis of EDS for a more detailed discussion of these conditions.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
