The rheumatological heritable disorders of connective tissue

The genetically determined rheumatological connective tissue disorders constitute a group of phenotypically related inherited conditions caused by aberrations in genes encoding for the fibrous connective tissue matrix proteins (collagens, elastins, fibrillins, tenascins). In most (but not all) of these conditions, the precise genetic cause has been identified. A common clinical feature is joint hypermobility. The frequently encountered, yet largely neglected, hypermobile type of Ehlers-Danlos syndrome and hypermobility spectrum disorder are both sources of much unrecognized morbidity and unnecessary suffering in the community.