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 the fibrous connective tissue matrix proteins (collagens, elastins, fibrillins and tenascins). In several (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, joint hypermobility syndrome is a source of much unrecognized morbidity and unnecessary suffering in the community.