This report describes general characteristics of the group of diseases classified as Ehlers-Danlos syndrome (EDS. Based on phenotypic criteria, multiple different categories of EDS have been defined. Ehlers-Danlos syndrome is also a genetically heterogeneous disorder, with multiple genes and mapped loci. A comprehensive list of EDS subtypes, as defined by OMIM (which number over 20 to date), can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these are listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Aug. 2020 by FlyBase; FBrf0222196]
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications. [Genetics Home Reference, Ehlers-Danlos syndrome; 2020.08.25]
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, easily bruised skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). The current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al., 2017; pubmed:28306229), which recognizes 13 EDS subtypes. [from MIM:130000; 2020.08.25]
Both autosomal dominant and autosomal recessive forms of EDS have been described. [from MIM:PS130000; 202008.25.]
