Definition
Rubinstein-Taybi syndrome is a syndrome characterized by broad thumbs and big toes, characteristic facial appearance, and developmental delay.
Symptoms
- Broad thumbs
- Characteristic face
- Developmental delay
- Cardiac anomalies
Reasons
CREBBP or EP300 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.