Jansen's metaphyseal chondrodysplasia
| Jansen's metaphyseal chondrodysplasia | |
| OMIM | 156400 |
|---|---|
| DiseasesDB | 31669 |
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.
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.[1][2]
Related Links
Resources
- Little People of America, Inc.
- Human Growth Foundation
- MAGIC Foundation for Children's Growth
- NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
- Craniofacial Foundation of America
References
- ↑ 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): 119–23. PMID 3562109.