MDST is a rare congenital condition characterized by a short stature and a mild form of metaphyseal dysplasia affecting the bones that apparently improves with age. Motor milestones are delayed, and the lower limbs are disproportionately short.
Mutations in the MMP13 gene are known to result in this condition.
Megarbane et al (2008) reported a consanguineous kindred in which six members were affected with MDST. Molecular analysis in this family excluded both the RMRP and COL10A1 genes.