Definition
Cornelia de Lange syndrome is a hereditary disorder characterized by developmental delay, characteristic facial appearance, and upper extremity anomalies.
Symptoms
- Developmental delay
- Characteristic face
- Microcephaly
- Upper extremity anomalies
Reasons
NIPBL or other 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 respiratory distress, emergency services should be consulted.
This page is for general information purposes only.