Definition
Bloom syndrome is a rare autosomal recessive genetic disease characterized by short stature, facial telangiectasias, immunodeficiency, and cancer predisposition.
Symptoms
- Intrauterine growth retardation
- Facial telangiectasias with butterfly distribution
- Immunodeficiency
- Increased risk of cancer
Reasons
Mutation in the BLM gene.
Diagnosis
Chromosome fragility testing, genetic testing.
Treatment
Cancer screening, infection prevention.
Which Polyclinic Should You Apply To?
Genetics 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.