Definition
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, characteristic face, and progressive cardiac disease.
Symptoms
- Short stature
- Characteristic face
- Progressive cardiac disease
- Joint contractures
Reasons
ADAMTSL2 or FBN1 gene mutations.
Diagnosis
Clinical findings, genetic testing.
Treatment
Cardiac monitoring.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
In case of heart failure, emergency services should be consulted.
This page is for general information purposes only.