As part of our 28 Days, 28 Rare Diseases campaign, today we focus on Osteogenesis Imperfecta (OI)—a genetic condition that makes bones weak and easy to break.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families understand and manage OI. With early diagnosis and proper care, people with this condition can lead active and independent lives.
What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta (OI), also called Brittle Bone Disease, is a genetic disorder that causes weak bones. It happens because of faulty collagen, a protein that keeps bones strong.
Common Signs of OI:
✔ Frequent bone fractures, even from small falls
✔ Short height and curved bones
✔ Loose joints and weak muscles
✔ Blue or grey tint in the whites of the eyes
✔ Hearing loss as they grow older
✔ Weak teeth that break easily
Some people with OI have very few fractures, which may be mistaken as normal childhood injuries. Others have severe OI and may break bones during birth or while inside the womb.
Dr. Roshan Daniel’s Experience with Osteogenesis Imperfecta
In his practice, Dr. Roshan Daniel has seen many types of OI.
✅ Some babies are diagnosed at birth because of broken bones.
✅ Some children break bones easily while learning to walk.
✅ Some adults have mild OI and are diagnosed after repeated fractures.
✅ Some cases are detected only when a child is tested after a family member is diagnosed.
💡 Cost of Testing (as of February 2025):
✔ X-ray and Bone Density Test (DXA Scan): ₹2,000 – ₹5,000
✔ Genetic Test (COL1A1 and COL1A2 Mutation Analysis): ₹15,000 – ₹25,000, results in 14 working days
How is OI Diagnosed?
Doctors use different tests to confirm OI.
✔ X-rays and Bone Density Test – Show weak or broken bones.
✔ Genetic Test (COL1A1 and COL1A2 Mutation Analysis) – Confirms OI.
✔ Physical Examination – Checks for joint looseness, bone deformities, and blue sclera (eye color change).
If one family member has OI, siblings and close relatives should be tested, even if they have no symptoms.
How is OI Treated?
There is no complete cure, but treatment helps strengthen bones and reduce fractures.
🔹 Bisphosphonates (Bone-Strengthening Medicine)
✔ Injection every 3 months (₹750 per vial)
✔ Oral tablets taken regularly
🔹 Physical Therapy – Improves movement and muscle strength.
🔹 Braces and Orthopedic Support – Prevents bone deformities.
🔹 Surgery (Rodding Procedure) – Metal rods are placed inside bones to prevent fractures.
🔹 Calcium and Vitamin D Supplements – Help maintain strong bones.
💡 Regular DXA scans monitor bone strength. Hearing tests are also needed, as OI can lead to hearing loss later in life.
With proper treatment and care, most people with OI can stay active and live normal lives.
Frequently Asked Questions (FAQs) on OI
💡 What causes OI?
OI is caused by faulty genes (COL1A1, COL1A2) that affect collagen production, making bones fragile.
💡 Is OI inherited?
Yes. OI can be passed from parent to child or occur randomly as a new mutation. If one parent has OI, there is a 50% chance of passing it to their child.
💡 Can OI be diagnosed before symptoms start?
Yes. Genetic testing can confirm OI before symptoms appear.
✔ Genetic testing for family members is recommended.
✔ Early treatment helps prevent serious fractures.
💡 Can OI be detected before birth?
Yes. If a parent has OI, prenatal genetic testing (amniocentesis or CVS) can check if the baby has OI.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with OI live normal lives?
Yes! With proper care, people with OI can lead full, active lives.
✔ Bone-strengthening therapy helps reduce fractures.
✔ Physical therapy improves movement.
✔ Regular check-ups prevent complications.
💡 Dr. Roshan Daniel has treated many patients who, with lifelong care, live independent lives.
💡 What happens if OI is not treated?
Without treatment, bones remain weak, leading to:
✔ Frequent fractures and curved bones.
✔ Walking difficulties and spine problems.
✔ Hearing loss and weak teeth.
💡 Starting treatment early prevents these problems.
💡 Can OI happen again in future pregnancies?
Yes. If one parent has OI, each pregnancy has a 50% chance of the child inheriting the condition.
✔ Prenatal testing (₹35,000) can check if an unborn baby has OI.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing and Counselling for OI
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Bone tests (X-ray and DXA scan) for OI
✔ Genetic testing for COL1A1 and COL1A2 mutations
✔ Carrier screening for couples planning a baby
✔ Personalized treatment plans to prevent fractures
✔ Online consultations for remote patients
If you or a family member has frequent fractures, bone pain, or a family history of OI, early testing can help prevent serious issues.
Join Us in Spreading Awareness!
Osteogenesis Imperfecta is manageable, but early diagnosis is key. Spreading awareness about symptoms, testing, and treatment can help families make informed choices.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring patients get the right treatment at the right time.
For expert advice on genetic testing, counselling, or Osteogenesis Imperfecta care, contact Dr. Roshan Daniel at KIMSHealth today!💙