Definition
Jansen metaphyseal chondrodysplasia is a rare skeletal dysplasia characterized by short stature, hypercalcemia, and severe metaphyseal dysplasia.
Symptoms
- Short stature
- Hypercalcemia
- Severe metaphyseal dysplasia
- Joint contractures
Reasons
PTH1R gene mutation.
Diagnosis
Clinical findings, genetic testing.
Treatment
Symptomatic treatment.
Which Polyclinic Should You Apply To?
Orthopedic Polyclinic
What to Do in an Emergency?
In case of hypercalcemia crisis, emergency services should be consulted.
This page is for general information purposes only.