2017/03/01 by Angela F. Brady, Serwet Demirdas, Sylvie Fournel‐Gigleux +13 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Dermatological and Skeletal Disorders #Bone health and treatments #Joint hypermobility #Ehlers–Danlos syndrome #Genetic heterogeneity #Medicine #Connective tissue #Phenotype #Nosology #Dermatology #Extracellular matrix #Connective Tissue Disorder #Pathology #Genetics #Biology #Gene #Anatomy
paper · pdf · doi:10.1002/ajmg.c.31550
openalex publication_date 2017/03/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. © 2017 Wiley Periodicals, Inc.