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Osteogenesis Imperfecta

Osteogenesis Imperfecta

Dr. Syeda Aafia
Written By Dr. Syeda AafiaMBA, BDS
Reviewed By Dr. Rajeev Sharma
MBA, MBBS
Last updated on: 15 Dec 2025 | 10:24 AM (IST)
Also known as Brittle bone disease, Brittle bone dysplasia and OI
Overview

Osteogenesis Imperfecta (OI) is a rare genetic condition present from birth, caused by a problem with collagen—the key protein that gives bones their strength and structure. When collagen is missing, reduced, or not formed properly, the bones become fragile and break much more easily than normal.

 

The condition can show up in different ways: frequent fractures, short stature, a bluish tint in the eyes (blue sclerae), dental issues, and sometimes hearing loss. Symptoms can range from very mild to more severe, and many children are diagnosed early in life when these signs begin to appear.

 

While OI cannot be cured, treatment focuses on strengthening the body and reducing fractures. This usually includes physical therapy, bisphosphonate medicines to improve bone density, supportive devices for mobility, and regular follow-ups to help children grow, stay active, and maintain their independence.

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Overview
Key Facts
Symptoms
Types
Causes
Risk factors
Diagnosis
Prevention
Specialist to visit
Treatment
Home-care
Complications
Alternatives therapies
Living with
FAQs
References