Definition
Thanatophoric dysplasia is a rare skeletal dysplasia characterized by severe short stature, rib cage hypoplasia, and a lethal course.
Symptoms
- Seriously short stature
- Rib cage hypoplasia
- Clavicle view
- Lethal course
Reasons
FGFR3 gene mutation.
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.