Disease
Ehlers-Danlos syndrome type X
Overview

Contributor: Gordon K. Klintworth
Ehlers-Danlos syndrome type X (Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality, Ehlers-Danlos syndrome type IX syndrome dysfibronectinemic type) is one variety of Ehlers-Danlos syndrome. It has been mapped to human chromosome 2 (2q34). A mild Ehlers-Danlos syndrome phenotype is associated with defective platelet aggregation in response to collagen. The basic defect is thought to be a functionally abnormal fibronectin.