Bloom syndrome is a rare genetic disorder that is characterized by a failure in the number of chromosomes, caused by a mutation of the genes.
Individuals with Bloom's syndrome have photosensitivity and deficiencies in their immune system, which increases the likelihood of developing diseases such as cancer and pneumonia. Its symptoms manifest in the first months of life.
Symptoms of Bloom Syndrome
Short stature, protruding nose, changes in facial skin color, sharp voice, frequent infections, respiratory problems, increased likelihood of developing cancer, growth problems, and mental retardation.
Diagnosis of Bloom's Syndrome
The diagnosis is made through clinical observation of the 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. The symptoms are alleviated through growth hormones and nutrition methods.
Treatment for cancer should be cautious because individuals are hypersensitive to radiation therapy and chemotherapy.
