Definition
Asphyxiating thoracic dysplasia is a rare skeletal dysplasia characterized by a narrow rib cage, short extremities, and respiratory failure.
Symptoms
- Narrow rib cage
- Short limbs
- Polydactyly
- Respiratory Failure
Reasons
DYNC2H1 gene mutation.
Diagnosis
Clinical findings, genetic testing.
Treatment
Respiratory support.
Which Polyclinic Should You Apply To?
Pediatrics Polyclinic
What to Do in an Emergency?
In case of respiratory failure, emergency services should be consulted.
This page is for general information purposes only.