Metaphyseal chondrodysplasia, Jansen type
A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging) waddling gait bowed legs contracture deformities of the joints short hands with clubbed fingers clinodactyly prominent upper face and small mandible as well as chronic parathyroid hormone-independent hypercalcemia hypercalciuria and mild hypophosphatemia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Metaphyseal chondrodysplasia, Jansen type?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Jansen’s Foundation
THE MISSION OF THE JANSEN'S FOUNDATION IS TO BRING AWARENESS AND SUPPORT RESEARCH IN HOPES OF BRINGING ABOUT A CURE TO THIS DEBILITATING SKELETAL CONDITION.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.