Definition
Cartilage-hair hypoplasia is a rare skeletal dysplasia characterized by short stature, fine hair, and immunodeficiency.
Symptoms
- Short stature
- Fine hair
- Immunodeficiency
- Anemia
Reasons
RMRP gene mutation.
Diagnosis
Clinical findings, genetic testing.
Treatment
Immunological support.
Which Polyclinic Should You Apply To?
Immunology Polyclinic
What to Do in an Emergency?
In case of serious infection, emergency services should be consulted.
This page is for general information purposes only.