Definition
Achondrogenesis is a rare skeletal dysplasia characterized by severe short stature, rib cage hypoplasia, and a lethal course.
Symptoms
- Seriously short stature
- Rib cage hypoplasia
- Hydrops fetalis
- Lethal course
Reasons
TRIP11, SLC26A2 gene mutations.
Diagnosis
Prenatal ultrasound, genetic testing.
Treatment
Palliative care.
Which Polyclinic Should You Apply To?
Genetics Polyclinic
What to Do in an Emergency?
Neonatal resuscitation may be required.
This page is for general information purposes only.