Ehlers-Danlos syndrome, fibronectinemic type
Ehlers-Danlos syndrome, fibronectinemic type
Definition
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.
Also known as EDS X, Ehlers-Danlos syndrome type 10, Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality, Ehlers-Danlos syndrome, fibronectin-deficient — per MONDO