Definition
DiGeorge syndrome is a syndrome characterized by thymic hypoplasia, congenital heart defects, and hypocalcemia.
Symptoms
- Congenital heart defect
- Hypocalcemia
- Thymic hypoplasia
- Cleft palate
Reasons
22q11.2 deletion.
Diagnosis
Clinical findings, FISH analysis.
Treatment
Multidisciplinary approach.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
In case of hypocalcemia tetany, emergency services should be consulted.
This page is for general information purposes only.