Definition
Diastrophic dysplasia is a rare skeletal dysplasia characterized by short stature, limb deformities, and ear deformities.
Symptoms
- Short stature
- Extremity deformities
- Ear deformities
- Scoliosis
Reasons
SLC26A2 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.