Pseudoachondroplasia (PSACH)

Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to epiphyseal dysplasia, multiple, 1 and cartilage disease, and has symptoms including ulnar deviation of the wrist and waddling gait. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Resveratrol and Platelet Aggregation Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are joint laxity and disproportionate short-limb short stature