Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes. Issue 3 (17th August 2020)

• Record Type: Journal Article
• Authors: Gensemer, Cortney; Burks, Randall; Kautz, Steven; Judge, Daniel P.; Lavallee, Mark; Norris, Russell A.
• Other Names: Bandyopadhyay Amitabha guestEditor.; Francis‐West Philippa guestEditor.; Katti Dhirendra guestEditor.; Roselló‐Díez Alberto guestEditor.
• Is Part Of: Developmental dynamics. Volume 250:Issue 3(2021)
• Page Start: 318
• Page End: 344
• Publication Date: 2020-08-17
• Subjects: Ehlers‐Danlos syndrome -- hypermobility -- musculoskeletal; Morphogenesis -- Periodicals; Anatomy -- Periodicals; Anatomie -- Périodiques; Biologie du développement -- Périodiques; 571.833
• DOI: 10.1002/dvdy.220
• Languages: English
• ISSNs: 1058-8388

Abstract

Abstract: The Ehlers‐Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings on EDS were related to alterations in fibrillar collagen, but the elucidation of the molecular basis of many of the subtypes revealed several genes not involved in collagen biosynthesis or structure. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. hEDS is the most common type of EDS and involves generalized joint hypermobility, musculoskeletal manifestations, and mild skin involvement along with the presence of several comorbid conditions. Variability in the spectrum and severity of symptoms and progression of patient phenotype likely depend on age, gender, lifestyle, and expression domains of the EDS genes during development and postnatal life. In this review, we summarize the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS with a focus on the hypermobile type. Key Findings: A comprehensive review of EDS phenotypes, diagnoses and causes with a focus on the hESD subtype Will serve as a critical resource for the connective tissue community Displays expression of many of the EDS genes during development