Catalog

Metaphyseal chondrodysplasia, Jansen type

No MMS code

Link to WHO Definition

Metaphyseal chondrodysplasia, Jansen type – http://id.who.int/icd/entity/1652660420

Jansen's metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant chondrodysplastic syndrome characterised by short-limbed dwarfism and severe, agonist-independent hypercalcemia.