Ehlers-Danlos syndrome, fibronectinemic type
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.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0020066
Ehlers-Danlos syndrome
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
EDS X
exact
EDS10 (formerly)
related
Ehlers-Danlos syndrome type 10
exact
Ehlers-Danlos syndrome type 10 (formerly)
related
Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality
exact
Ehlers-Danlos syndrome, fibronectin-deficient
exact
Ehlers-Danlos syndrome, type X (formerly)
related