What Is Osteogenesis Imperfecta?

Osteogenesis Imperfecta


Osteogenesis imperfecta is a genetic bone condition that affects children. A lifelong condition, its symptoms vary depending on the type and severity. The blog throws light on this condition.


Osteogenesis imperfecta is a genetic bone condition that some children are born with. More popularly known as brittle bone disease, children afflicted with this condition have bones that seem to break easily; the bone formation is also affected in some cases. The manifestation of the condition varies from mild to severe. As it is a lifelong condition, the aim is to manage it by preventing fractures and deformities.

Types of Osteogenesis Imperfecta (OI)

While experts have identified many types of OI, the main types are discussed briefly below:

  • Type I: This is the most common type that 50% of children diagnosed with OI are identified to have. Symptoms are mild and fractures and deformities are much lesser than in other types.
  • Type II: This is the most severe form of OI. Babies born with this type usually do not survive long. Soft skull, short limbs and small chest are characteristic of this type. The baby may be born with fractures. Lung development is affected and birth weight is low.
  • Type III: Another severe type, babies with this type have short limbs. The baby’s head will be large and chest and spine deformities may be present. The baby may also have breathing and swallowing difficulties.
  • Type IV: Symptoms vary from mild to moderate for this type. Babies might develop a fracture when they start crawling. The bones may not be straight and growth will be affected.

Osteogenesis Imperfecta Causes

As already mentioned, OI is a genetic condition. That means the baby inherits the gene from one or both parents. Sometimes, the parents are only carriers of the gene i.e., they have the genes but are not affected themselves. In some cases, gene mutation also causes the condition.

Collagen is needed for bone strength. The gene responsible for the condition is the one that helps in collagen formation. As a result, when the gene is defective, collagen production is affected and so is bone strength.

However, the condition is rare affecting one person in 20,000.

Symptoms of Osteogenesis Imperfecta

The symptoms vary greatly and hence may be mistaken for other conditions. Always consult your doctor for an accurate diagnosis of the condition.

The symptoms usually include the following:

  • Bones that seem to break easily
  • Bone deformities
  • The sclera of the eye that is white may be discoloured (blue or grey)
  • Spine is curved
  • Chest looks barrel shaped
  • Shape of face is triangular
  • Easy bruising of skin
  • Muscle weakness
  • Loss of hearing in adults
  • Soft and discoloured teeth

Diagnosing Osteogenesis Imperfecta

Your doctor will start by examining the baby’s medical history and symptoms. The pregnancy period and family history will also be taken into account. A physical examination will be done.

The doctor may order the following tests to confirm diagnosis.

  • X-ray to check for fractures and bone deformities.
  • Blood tests to identify gene mutations.
  • DEXA scan to check bone density.
  • A bone biopsy done under general anesthesia wherein a sample of the hip bone is checked.

Treatment for Osteogenesis Imperfecta

As OI is a lifelong condition, treatment centers around avoiding fractures and helping the child to be as independent as possible in adulthood.

The doctor will take the following into consideration before formulating a treatment protocol:

  • The age and overall health of the child
  • The child’s medical history
  • The child’s tolerance for certain medicines
  • The prognosis
  • Parents’ preferences if any when it comes to treatment

Treatment could include the following prevention and correction methods:

  • Bisphosphonates may be given to make the bones stronger and reduce the possibility of fractures. They can be given as tablets or in the IV form.
  • In case a fracture happens, a light cast will be used to set the bone. The child will be encouraged to start moving the part as soon as possible.
  • Bracing, splinting or surgery may be suggested depending on the fracture.
  • Metal rods may be inserted into bones to prevent deformities.
  • The use of assistive devices may be suggested.
  • Physical and occupational therapy can help the child. Physical therapy will help strengthen and mobilize the child and decrease pain. Occupational therapy will help the child perform daily activities and promote independence.

Possible Complications of OI

OI can affect other body systems. The possibility of developing complications depends on the type of OI and how severe the condition is. The possible complications are given below:

  • Pneumonia and other respiratory diseases
  • Heart issues like valvular disease, atrial fibrillation, etc.
  • Kidney stones
  • Joint problems
  • Loss of hearing
  • Eyesight may be affected and loss of vision is also a possibility

Helping a Child with OI

A parent of a child with OI has to keep the following in mind:

  • Fracture Prevention: As a baby, the child should be handled very carefully and must not be kept in the same position for too long. When the baby becomes a toddler, the parent will have to help him/her avoid injuries. Both a physiotherapist and an occupational therapist can help with this.
  • Avoiding Infection: A child with OI is not only more prone to infection but he/she can also get affected more by the infection when compared to other children. Hence, staying on schedule with vaccinations is essential. Crowded places are best avoided during the flu season. Parents should maintain hygiene and teach the child hygienic practices as he/she gets older.
  • Pain Management: Fractures are very painful for the child. Talk to the doctor about pain medication and ways to handle the pain.
  • Routine Check-ups: Do not miss regular health checks during which the child’s dental and eye health will also be monitored.
  • Find Safe Hobbies: Before introducing hobbies, talk to your doctor about the activities that should be avoided. Help your child try various safe activities like photography, writing, art, etc.
  • Awareness About the Condition: As the child gets older, help him/her learn about the condition and the healthcare needs it involves.
  • Family Time: Choose activities that you can enjoy as a family.

It is not easy for any parent to watch their child battle with illness. Remember that professional help is always available. Counselling can help both the parent and the child through tough emotional times.

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