Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history
Brad Tinkle, Marco Castori, Britta Berglund, Helen Cohen, Rodney Grahame, Hanadi Kazkaz, Howard Levy
The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations—joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder.
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
https://doi.org/10.1002/ajmg.c.31538
Published - Mar 1 2017
Ehlers–Danlos syndrome hypermobility type
Ehlers–Danlos syndrome type III
joint hypermobility
joint hypermobility syndrome
Genetics(clinical)
10.1002/ajmg.c.31538
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Natural History Medicine & Life Sciences 100%
Joint Dislocations Medicine & Life Sciences 67%
Connective Tissue Medicine & Life Sciences 46%
Joint Instability Medicine & Life Sciences 32%
Causality Medicine & Life Sciences 23%
Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017). Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 175(1), 48-69. https://doi.org/10.1002/ajmg.c.31538
Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type) : Clinical description and natural history. / Tinkle, Brad; Castori, Marco; Berglund, Britta; Cohen, Helen; Grahame, Rodney; Kazkaz, Hanadi; Levy, Howard.
In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 175, No. 1, 01.03.2017, p. 48-69.
Tinkle, B, Castori, M, Berglund, B, Cohen, H, Grahame, R, Kazkaz, H & Levy, H 2017, 'Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 175, no. 1, pp. 48-69. https://doi.org/10.1002/ajmg.c.31538
Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H et al. Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2017 Mar 1;175(1):48-69. https://doi.org/10.1002/ajmg.c.31538
Tinkle, Brad ; Castori, Marco ; Berglund, Britta ; Cohen, Helen ; Grahame, Rodney ; Kazkaz, Hanadi ; Levy, Howard. / Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type) : Clinical description and natural history. In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2017 ; Vol. 175, No. 1. pp. 48-69.
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title = "Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history",
abstract = "The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations—joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder.",
keywords = "Ehlers–Danlos syndrome hypermobility type, Ehlers–Danlos syndrome type III, joint hypermobility, joint hypermobility syndrome",
author = "Brad Tinkle and Marco Castori and Britta Berglund and Helen Cohen and Rodney Grahame and Hanadi Kazkaz and Howard Levy",
note = "Publisher Copyright: {\textcopyright} 2017 Wiley Periodicals, Inc.",
doi = "10.1002/ajmg.c.31538",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
T1 - Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type)
T2 - Clinical description and natural history
AU - Tinkle, Brad
AU - Castori, Marco
AU - Berglund, Britta
AU - Cohen, Helen
AU - Grahame, Rodney
AU - Kazkaz, Hanadi
AU - Levy, Howard
N1 - Publisher Copyright: © 2017 Wiley Periodicals, Inc.
N2 - The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations—joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder.
AB - The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations—joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder.
KW - Ehlers–Danlos syndrome hypermobility type
KW - Ehlers–Danlos syndrome type III
KW - joint hypermobility
KW - joint hypermobility syndrome
U2 - 10.1002/ajmg.c.31538
DO - 10.1002/ajmg.c.31538
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics