Bloom syndrome

Bloom syndrome is a rare genetic disorder caused by mutations in the BLM gene, which helps repair DNA damage. Individuals with this condition experience increased risk of developing unique features like very light skin and sun-sensitive skin, along with short stature and a higher likelihood of early-onset cancers. They often have frequent infections and may face challenges with growth and immune function. Bloom syndrome results from faulty DNA repair, leading to increased genetic instability, which contributes to these health issues. It is inherited in an autosomal recessive pattern, meaning both copies of the BLM gene must be affected.