Bloom Syndrome
Bloom Syndrome is a rare genetic disorder caused by mutations in the BLM gene, which is responsible for DNA repair. Individuals with this condition often have a higher risk of developing various cancers, as their cells are more prone to genetic instability. Symptoms may include short stature, a distinctive facial appearance, and increased sensitivity to sunlight.
People with Bloom Syndrome typically experience a range of health issues, including immune deficiencies and diabetes. The disorder is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for a child to be affected. Early diagnosis and management can help improve quality of life.