/Ehlers-Danlos syndrome, fibronectinemic type

Ehlers-Danlos syndrome, fibronectinemic type

Rare Disease

MONDO:0009158

Also Known As

EDS XEhlers-Danlos syndrome type 10Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormalityEhlers-Danlos syndrome, fibronectin-deficientEDS 10EDS10 (formerly)Ehlers-Danlos syndrome type 10 (formerly)Ehlers-Danlos syndrome, dysfibronectinemic typeEhlers-Danlos syndrome, type 10Ehlers-Danlos syndrome, type X (formerly)FN Abnormality

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.