Jansen's metaphyseal chondrodysplasia

From Wikipedia, the free encyclopedia

'Jansens 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.

Presentation

It 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

  • Murk Jansen Type Metaphyseal Chondrodysplasia
  • Jansen Metaphyseal Dysostosis
  • Jansen Disease
  • JMC

    • Eponym

    It is named for Murk Jansen.Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934.

    Next Page


    This article is based on an article from Wikipedia, the free encyclopedia and is available under the terms of GNU Free Documentation License.
    In the Wikipedia there is a list with all authors of this article available.