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Jansen's metaphyseal chondrodysplasia
Jansen's Metaphyseal Chondrodysplasia or JMC is a disease of the parathyroid hormone receptors. It is extremely rare and as of 2007 there are only 17 reported cases world-wide. Additional recommended knowledge
PresentationIt causes short stature, with normal epiphyseal plates but disorganized metaphyseal regions. Hypercalcemia (Elevated levels of calcium in the blood) is often associated with Jansen's, but is not necessarily indicative of JMC. Physical irregularities often associated with Jansen's include: prominent or protruding eyes, a high arched palate, micrognathia or abnormal smallness of the jaws - particularly the lower (mandible) jaw, choanal stenosis, wide cranial sutures and irregular formation of the long bones which can resemble rickets. Synonyms
EponymIt is named for Murk Jansen.[1][2] Related Links
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Categories: Syndromes | Growth disorders |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Jansen's_metaphyseal_chondrodysplasia". A list of authors is available in Wikipedia. |