Definition
Cardiofaciocutaneous syndrome is a hereditary disease characterized by congenital heart defects, characteristic facial appearance and skin anomalies.
Symptoms
- Congenital heart defect
- Characteristic face
- Keratosis pilaris
- Developmental delay
Reasons
BRAF, KRAS, MAP2K1/2 gene mutations.
Diagnosis
Clinical findings, genetic testing.
Treatment
Symptomatic treatment.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
In case of symptoms of heart failure, emergency services should be sought.
This page is for general information purposes only.