exostoses, multiple, type 2

exostoses, multiple, type 2

An autosomal dominant skeletal disorder (OMIM:133701) that primarily affects endochondral bone during growth, characterised by formation of numerous cartilage-capped, benign bone tumors (osteochondromas) and often accompanied by skeletal deformities and short stature. Rare cases undergo malignant transformation of osteochondromas to osteosarcoma or chondrosarcoma.

Molecular pathology
Caused by defects of EXT2, which encodes exostosin 2, a glycosyltransferase involved in the chain elongation step of heparan sulfate synthesis.