Medical Geneticist

Brittle Bone Disease

Brittle Bone Disease, also known as Osteogenesis Imperfecta (OI), is a genetic disorder that affects the bones, making them fragile and prone to fractures. People with OI often experience frequent bone breaks (fractures), even with minor bumps or movements, and can have other symptoms affecting their teeth, skin, and joints. The condition ranges from mild […]

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Osteopetrosis

Osteopetrosis, often called “stone bone disease,” is a rare genetic disorder where the bones become abnormally dense and hard because of a defect in the osteoclasts (the cells responsible for breaking down bone). This leads to bones becoming fragile and prone to fractures despite being very dense. Here’s a breakdown with emojis: 🦴 Abnormally Dense

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