How is Osteogenesis Imperfecta (OI) diagnosed?
OI is usually diagnosed based on a child’s medical history, physical signs, and pattern of fractures. Doctors look for typical features like frequent breaks, blue sclera (the white part of the eye looking slightly blue), and family history. Sometimes, X-rays or genetic tests are needed to confirm the diagnosis.
When should I suspect OI in my child?
If a baby or child has multiple fractures after minor injuries, short stature, or other signs such as brittle bones or hearing problems, doctors may suspect OI. Some babies with OI can even show signs before birth on ultrasound scans, such as bowed legs or other bone changes.
What tests help to confirm OI?
Your doctor may recommend a combination of tests, including:
- X-rays: To look at the pattern of fractures and bone structure.
- Blood tests: To rule out other causes of fragile bones.
- Genetic testing: To identify the exact gene change responsible for OI.
- Bone density scan (DXA): To measure bone strength. This test should be performed in a centre with expertise in scanning children, as results can vary depending on growth and bone size.
Is genetic testing always needed?
Not always. In many children, doctors can diagnose OI based on clinical signs and X-rays alone. Genetic testing is useful when:
- The diagnosis is uncertain.
- The type of OI needs to be confirmed.
- Parents want to know the chance of OI in future pregnancies.
- Consult your local expert for advice on whether genetic testing would be helpful for your family.
Can OI be detected before birth?
Sometimes, yes. In severe forms of OI, bone changes can be seen on an ultrasound scan during pregnancy. If OI runs in the family, parents may be offered prenatal testing to see if the baby has inherited the gene change.
Who are the specialists involved in diagnosing and managing OI?
Diagnosis and care of OI often involve a team of specialists, including:
- Paediatricians who specialise in endocrinology or metabolic bone diseases, who
- coordinate bone health and medical treatment.
- Orthopaedic surgeons, who help manage fractures and perform corrective surgeries if needed.
- Geneticists and genetic counsellors, who guide genetic testing and family advice.
- Physiotherapists, who support movement, strength, and safe physical activity.
- Occupational therapists, who help children become more independent by advising on
- adaptive equipment, mobility aids, and daily living activities.
Does diagnosis change how OI is treated?
Yes. Knowing the type and severity of OI helps doctors plan the right treatment, such as bisphosphonate therapy, physiotherapy, and orthopaedic support. A confirmed diagnosis also helps families access the right medical, social, and educational support
.
What should I do after diagnosis?
Learning your child has OI can feel overwhelming. Remember:
- OI is lifelong, but treatment and support can make a big difference.
- Stay in touch with your child’s OI care team.
- Keep a record of fractures and clinic visits.
- Encourage safe activity and healthy diet.
- Seek advice early if new symptoms appear.
Where can I learn more?
Families in India can find reliable information and support through the Indian Osteogenesis Imperfecta Foundation (IOIF) — the national organisation dedicated to people living with OI. There are also international societies where more information and resources are available:
- Brittle Bone Society (BBS) — United Kingdom
- Osteogenesis Imperfecta Federation Europe (OIFE) — Europe
- Osteogenesis Imperfecta Foundation (OIF) — United States
For specific guidance on diagnosis or genetic testing, consult your local expert or OI specialist team.
About the Indian Osteogenesis Imperfecta Foundation (IOIF)
The Indian OI Foundation works to support families, raise awareness, and improve access to expert care for people living with Osteogenesis Imperfecta in India. Visit our website or contact your local OI specialist for more information and family resources.