Definition
Kniest dysplasia is a rare skeletal dysplasia characterized by short stature, joint contractures, and characteristic facial appearance.
Symptoms
- Short stature
- Joint contractures
- Characteristic face
- Myopia
Reasons
COL2A1 gene mutation.
Diagnosis
Clinical findings, genetic testing.
Treatment
Orthopedic treatment.
Which Polyclinic Should You Apply To?
Orthopedic Polyclinic
What to Do in an Emergency?
In case of respiratory distress, emergency services should be consulted.
This page is for general information purposes only.