Metaphyseal_chondrodysplasia,_Murk_Jansen_type
Jansen's metaphyseal chondrodysplasia
Rare genetic disorder involving dwarfism and endocrine symptoms
Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 (PTH1R) of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation).
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JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide. There are only 2 known families, from Dubai and Texas, in which the disease was passed from mother to daughter (Texas), and from a mother to her 2 sons (Dubai).[1]