Jansen's metaphyseal chondrodysplasia
|Jansen's metaphyseal chondrodysplasia|
|Classification and external resources|
Jansen's metaphyseal chondrodysplasia or JMC is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor (PTHR1), due to one of three reported mutations (activating mutation).
JMC is extremely rare and as of 2007 there are less than 20 reported cases worldwide.
Blood levels of parathryoid hormone (PTH) are undetectable, but the mutation in the PTHR1 leads to auto-activation of the signaling as though the hormone PTH was present. Severe JMC produces a dwarfing phenotype, or short stature. Examination of the bone reveals normal epiphyseal plates but disorganized metaphyseal regions. Hypercalcemia (elevated levels of calcium in the blood) )and hypophosphatemia (reduced blood levels of phosphorus), and elevated urinary calcium and phosphorus are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration.
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. Nephrocalcinosis (accumulation of calcium in the interstitum of the kidney) is seen commonly as well.
There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates.
There is one known family in which the disease was transmitted mother to daughter.
- Murk Jansen Type Metaphyseal Chondrodysplasia
- Jansen Metaphyseal Dysostosis
- Jansen Disease
- 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.
- Silverthorn KG, Houston CS, Duncan BP (1987). "Murk Jansen's metaphyseal chondrodysplasia with long-term followup". Pediatric radiology 17 (2): 119–123. doi:10.1007/BF02388087. PMID 3562109.
- Metaphyseal chondrodysplasia, Jansen type -- OrphaNet Information (PDF)
- Jansen’s Metaphyseal Chondrodysplasia, Case Report, Indian Pediatrics
- Jansen Type Metaphyseal Chondrodysplasia -- National Organization for Rare Disorders (NORD)
- A Novel Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation in Jansen’s Metaphyseal Chondrodysplasia, The Journal of Clinical Endocrinology & Metabolism (1)
- A Form of Jansen’s Metaphyseal Chondrodysplasia with Limited Metabolic and Skeletal Abnormalities Is Caused by a Novel Activating Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Mutation, The Journal of Clinical Endocrinology & Metabolism (2)
- Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia, The New England Journal of Medicine
- Constitutive Activation of the Cyclic Adenosine 3',5'-Monophosphate Signaling Pathway by Parathyroid Hormone (PTH)/PTH-Related Peptide Receptors Mutated at the Two Loci for Jansen’s Metaphyseal Chondrodysplasia, Molecular Endocrinology
- METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE GenomeNet
- (Abstract Only) - Murk Jansen's metaphyseal chondrodysplasia with long-term followup (Pediatric Radiology)