Bloom syndrome is a rare genetic disease that is characterized by a failure in the number of chromosomes, caused by a mutation of the genes.
Individuals with Bloom syndrome have photosensitivity and deficiencies in their immune system, which increases the likelihood of developing diseases such as cancer and pneumonia. Its symptoms appear in the first months of life.
Symptoms of Bloom's Syndrome
Short stature, protruding nose, changes in the skin color of the face, high-pitched voice, frequent infections, respiratory problems, more likely to develop cancer, growth problems and mental retardation.
Diagnosis of Bloom's Syndrome
The diagnosis is made through clinical observation of symptoms, and confirmed through genetic tests that analyze the individual's chromosomes.
Treatment for Bloom's Syndrome
There is no specific treatment for Bloom's syndrome. Symptoms are alleviated through growth hormones and nutrition methods.
Treatment in the case of cancer should be cautious, as individuals are hypersensitive to radiation and chemotherapy.
