Ehlers-Danlos syndrome, hypermobile type. (Ehlers-Danlos syndrome type 3)
Incidence
It is transmitted as an autosomal dominant trait.
Clinical Characteristics
Ehlers-Danlos syndrome is a heterogenous group of inherited disorders that affect the connective tissue. The new classification describes six clinical forms among which the 'hypermobile' form (formerly EDS type III). Main clinical signs are hyperextensible joints (Beighton's score is above 5) and skin (to variable degrees). One cardinal sign of classical EDS, i.e. atrophic skin scars, is not found in the hypermobile form. Pain of unknown origin, repeated sprains and/or luxations and a family history constitute other diagnosis criteria. Viscera are not affected in hypermobile EDS. The following signs are very frequently seen: wormian bones, dislocated hip, abnormal scarring, elbow dislocation, hyperelastic skin, hyperextensible joints, metatarsus adductus (Frequent sign), wrist anomalies (Occasional sign). It is transmitted as an autosomal dominant trait. Differential diagnosis should be made with hyperextensible joint syndrome, a frequent isolated condition in the population with no skin involvement. As of today there is no biochemical marker for hypermobile EDS. Thus, diagnosis is mainly clinical and requires a specialist's opinion.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
As of today there is no biochemical marker for hypermobile EDS. Thus, diagnosis is mainly clinical and requires a specialist's opinion.