Osteogenesis Imperfecta​

Osteogenesis imperfecta (OI) is a congenital bone disorder (meaning present at birth) causing fragile bones that can fracture easily. It is caused by a defect in the gene responsible for producing type 1 collagen, a protein used to build bones. OI can be mild to severe depending on the specific defect affecting the gene.

It is usually inherited. If you suffer from OI, there is a 50% chance that you will pass it on to your child. The disorder affects all races and genders equally.    

A significant cause of this disorder are inter-marriages.​​

The primary symptom of OI is weak bones prone to breaking. The tendency of the bones to fracture depends on the severity of the disease. Other symptoms due to this disorder include:

  • Multiple bone fracture

  • Loose joints (hypermobility)

  • Early loss of hearing

  • Bluish colour in the whites of the eye (blue sclera)

  • Bowed arms and legs

  • Short stature

  • Development of poor teeth

  • Outward curving of the spine (kyphosis)

  • S-shaped curving of the spine (scoliosis)​

Set a consultation with a doctor at the Musculoskeletal and Sports Medicine Service Line at The Aga Khan University Hospital if you notice the above mentioned symptoms in your child or if your child’s bones fracture with minimal force.​

​Your time with your doctor maybe limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.​

The doctor may begin the process of diagnosis by inquiring about the frequency of fractures and checking your child’s eyes for blue tints. If they suspect OI, they may ask for the following tests to be conducted:

  • X-ray in which a small amount of radiation is used to generate an image of your bones and organs, to study the bones and previous fractures

  • Skin punch biopsy in which a sharp hollow tube is used to remove a portion of your skin to be examined

  • Genetic testing to determine the presence of any defective gene

  • Severe cases of OI can be detected during routine prenatal ultrasound scans. ​

Raising a child with OI can be difficult and challenging. You have to be on a constant lookout to make sure they don’t suffer from a fall or endure even minor physical trauma as that may lead to fractures. While there is no cure for OI, there are various therapies and treatments that will help your child lead a normal life and reduce complications associated with the disease.

Your doctor will guide you regarding the services to treat OI which may include:

  • Low impact exercises such as swimming to build bone and strengthen muscles

  • Bisphosphonate medications to increase the density and strength of the bones

  • Pain reducing medications

  • Surgery to place rods in the bones to strengthen them and reduce the chances of fracture

  • Reconstructive surgery to treat any deformities such as bowed legs or spinal problem that causes hindrance in a person’s ability to walk and move around normally ​​

​The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.

The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.

The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.​​

​Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the ‘Important Numbers’ section on the website homepage​


The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.