Definition
Nijmegen fracture syndrome is a rare autosomal recessive genetic disease characterized by microcephaly, immunodeficiency, cancer predisposition and radiosensitivity.
Symptoms
- Microcephaly
- Immunodeficiency
- Increased risk of cancer
- Radiosensitivity
Reasons
Mutation in the NBN gene.
Diagnosis
Clinical findings, genetic testing.
Treatment
Immunoglobulin replacement, cancer screening.
Which Polyclinic Should You Apply To?
Immunology Polyclinic
What to Do in an Emergency?
In case of severe infection, emergency services should be consulted.
This page is for general information purposes only.