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.