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Osteogenesis Imperfecta: The Reality of Brittle Bones

Overview

Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder that affects bone strength and development. People with OI have fragile bones that break easily, sometimes from minor trauma or even without any apparent cause.

Causes

OI is caused by mutations in the COL1A1 or COL1A2 genes, which affect the production of collagen, an essential protein that provides strength to bones and connective tissues.

Types of OI

There are at least eight types of OI, ranging from mild to severe:

Type I (Mild): The most common form, causing frequent fractures but normal lifespan.

Type II (Severe): Often fatal at birth due to extreme bone fragility.

Type III (Severe, progressive): Causes significant bone deformities, short stature, and respiratory issues.

Type IV–VIII: Varying severity, with some causing moderate deformities and others affecting growth.