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What is Bloom Syndrome? | Genetic Disorder | Causes And Symptoms | News In Focus | The Study IAS

Bloom Syndrome is an extremely rare genetic disorder caused by defects in the BLM gene, affecting DNA repair, growth, immunity, and increasing cancer risk. Only around 294 cases are reported worldwide, making awareness limited even among doctors. Symptoms include short stature, facial abnormalities, sun-sensitive skin, recurrent infections, endocrine issues, and infertility. While there’s no permanent cure, treatments focus on symptom management, infection prevention, and regular cancer screening. Recent cases in India highlight the need for better genetic awareness and research.

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