Bloom syndrome is a rare genetic disease characterized by a failure in the number of chromosomes, caused by a mutation of genes.
People with Bloom syndrome have photosensitivity and deficiencies in their immune system, increasing the likelihood of developing diseases such as cancer and pneumonia, their symptoms appearing in the first few months of life.
- Small size.
- Prominent nose.
- Changes in skin color of the face.
- Loudness.
- Frequent infections.
- Breathing problems.
- Increased likelihood of developing cancer.
- Growth problems and mental retardation.
Diagnosis is made by clinical observation of symptoms and confirmed by genetic tests that analyze the individual’s chromosomes.
There is no specific treatment for Bloom syndrome; symptoms are alleviated with growth hormones and nutrition methods.
Cancer treatment should be careful, as people are hypersensitive to radiation and chemotherapy.