Definition
Pyknodysostosis is a rare bone disease characterized by short stature, brittle bones, and a characteristic facial appearance.
Symptoms
- Short stature
- Brittle bones
- Characteristic face
- Osteosclerosis
Reasons
CTSK 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 bone fracture, emergency services should be consulted.
This page is for general information purposes only.