Summary
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The 'hypermobile' form (formerly EDS type III) is the most frequent form of EDS with an estimated prevalence of 1/10 000. Main clinical signs are generalised joint hyperlaxity, which is often quite severe (Beighton score above 5) and variable degrees of skin hyperextensibility. One cardinal sign of classical EDS, i.e. atrophic skin scars, is not found in the hypermobile form. Diffuse pain of unknown origin and asthenia are frequent. Other diagnostic criteria are repeated sprains and/or luxations resulting from joint hyperlaxity and a family history of the syndrome. Viscera are not affected in hypermobile EDS. The syndrome is transmitted as an autosomal dominant trait. More families need to be included in studies for genetic linkage before the causative genes can be identified. To date, there is no biochemical or molecular marker for hypermobile EDS. Thus, diagnosis is mainly clinical and requires a specialist's opinion. Differential diagnosis should include the more frequent familial hypermobile joint syndrome, which lacks the skin involvement. Major joint hyperlaxity can lead to long-term orthopaedic consequences (such as severe osteoarthritis). There is no specific treatment available for this disease. *Author: D. Germain (June 2006)*.
