Osteogenesis Imperfecta, a Rarely Known Bone Disease

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Osteogenesis Imperfecta, a Rarely Known Bone Disease
Osteogenesis Imperfecta, a Rarely Known Bone Disease

Osteogenesis imperfecta is a rare disease that causes bones to become brittle and weak so they break easily. This disease is caused by a genetic disorder and it is estimated that there are only about 300 thousand cases of osteogenesis imperfecta worldwide

Osteogenesis imperfecta (OI) has generally been experienced by sufferers since birth. However, this rare bone disease is often only detected in childhood or even after adulthood.

Osteogenesis Imperfecta, a Rarely Known Bone Disease - Alodokter

Osteogenesis imperfecta makes bones unable to form properly, so they are easy to crack or break. These fractures can even occur even if only caused by minor injuries or sometimes for no apparent reason.

Causes of Osteogenesis Imperfecta and its Symptoms

Osteogenesis imperfecta is caused by a genetic disorder that disrupts collagen production in the body. Collagen is a protein that functions to build body tissues, such as skin, connective tissue, and bones. When the amount of collagen decreases, the bones will become weaker and brittle.

This bone disease is more at risk for babies or children with parents who have the same condition. However, in certain cases, osteogenesis imperfecta can also occur in people who do not have a history of the same disease in their family.

Osteogenesis imperfecta does not cause typical symptoms. Some of the symptoms that are often experienced by sufferers are:

  • Bone deformities, such as bent legs
  • Changes in the color of the whites of the eyes, such as blue, purple, or grayish
  • Spine curvature or scoliosis
  • Loose joints
  • Skin bruises easily
  • Respiratory disorders, such as shortness of breath
  • Teeth brittle or discolored
  • less or short height
  • Head size is too small or too big

The symptoms of osteogenesis imperfecta can appear in childhood, adolescence, or adulthood.

Because they are often asymptomatic, you need to have your baby or child checked regularly, especially if he or she has symptoms such as abnormal bone shape, easy fractures, difficulty moving or walking, and impaired growth and development.

How to Diagnose and Treat Osteogenesis Imperfecta

Osteogenesis imperfecta is a medical condition that needs to be examined and treated by a doctor. To diagnose this disease, the doctor can perform a physical examination and supporting examinations, such as X-rays, blood and urine tests, DNA tests, and bone biopsies.

Osteogenesis imperfecta can't be cured yet. However, doctors can provide treatment to improve bone shape, prevent fractures, and help sufferers to live more independently. The handling steps include:


Doctors can give drugs, such as hormone therapy, sodium fluoride, and bisphosphonates to strengthen bones and make them less prone to fracture. These drugs can be given by injection or by mouth.

In addition, doctors can also prescribe supplements to strengthen bones, such as calcium, vitamin C, vitamin D, collagen, and magnesium.


Physiotherapy aims to build muscle strength so that the patient can still move and his body is not stiff. For patients with osteogenesis imperfecta who are still children, physiotherapy can also be done to support growth and development while stimulating motor skills.


Operations are generally performed on patients with osteogenesis imperfecta who often experience fractures or bone deformities. In addition, surgery is also performed to repair damaged bones and body tissues when injured.

In patients with osteogenesis imperfecta who have scoliosis, doctors may recommend surgery to improve body shape.

The various treatment steps above cannot cure osteogenesis imperfecta. However, sufferers of this rare disease still need to get treatment so that their condition does not get worse and can still carry out their daily activities.

If you still have questions about osteogenesis imperfecta or are experiencing symptoms that suggest this rare disease, such as changes in bone shape or changes in body posture, you should consult a doctor so they can be treated immediately.

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