Definition
Ellis-van Creveld syndrome is a rare skeletal dysplasia characterized by short stature, polydactyly, and congenital heart defects.
Symptoms
- Short stature
- Polydactyly
- Congenital heart defect
- Dental anomalies
Reasons
EVC or EVC2 gene mutations.
Diagnosis
Clinical findings, genetic testing.
Treatment
Multidisciplinary approach.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
In case of heart failure, emergency services should be consulted.
This page is for general information purposes only.