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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.