Definition
Achondroplasia is an inherited disease characterized by short stature and disproportionate dwarfism.
Symptoms
- Short stature
- Big head
- Lordosis
- Short limbs
Reasons
FGFR3 gene mutation.
Diagnosis
Clinical findings, genetic testing.
Treatment
Growth hormone, surgery.
Which Polyclinic Should You Apply To?
Genetics 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.