It is traditionally thought to result from a Collagen Type II Alpha 1 Chain (COL2A1) mutation on chromosome 12q13.1-q13.2 [1,2]; however, recently the Trafficking Protein Particle Complex Subunit 2 (TRAPPC2) gene mutation has also been associated with the skeletal dysplasia [3,4]. Here, COL2A1 is linked to skeletal dysplasia.