Definition
Kabuki syndrome is an inherited disorder characterized by characteristic facial appearance, developmental delay, and skeletal abnormalities.
Symptoms
- Kabuki makeup face
- Developmental delay
- Short fingers
- Cardiac anomalies
Reasons
KMT2D or KDM6A 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.