Osteogenesis imperfecta

Osteogenesis imperfecta

Description, Causes and Risk Factors:

Osteogenesis imperfecta (OI) is relatively rare. Approximately 20,000 to 50,000 people in the United States have the condition. In many children with osteogenesis imperfecta, the number of times their bones fracture decreases significantly as they mature. However, osteogenesis imperfecta may become active again after menopause in women or after the age of 60 in men.

Scoliosis, or curvature of the spine, is a problem for many children with osteogenesis imperfecta.

Mutations in the COL1A1, COL1A2, CRTAP, and LEPRE1 genes cause osteogenesis imperfecta. Mutations in the COL1A1 and COL1A2 genes are responsible for more than 90% of all cases of osteogenesis imperfecta. These genes provide instructions for making proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the body.

Most of the mutations that cause osteogenesis imperfecta type I occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. The mutations responsible for most cases of osteogenesis imperfecta types II, III, and IV occur in either the COL1A1 or COL1A2 gene.

These mutations typically alter the structure of type I collagen molecules. A defect in the structure of type I collagen weakens connective tissues, particularly bone, resulting in the characteristic features of osteogenesis imperfecta.

Mutations in the CRTAP and LEPRE1 genes are responsible for rare, often severe cases of osteogenesis imperfecta. Cases caused by CRTAP mutations are usually classified as type VII; when LEPRE1 mutations underlie the condition, it is classified as type VIII. The proteins produced from these genes work together to process collagen into its mature form. Mutations in either gene disrupt the normal folding, assembly, and secretion of collagen molecules. These defects weaken connective tissues, leading to severe bone abnormalities and problems with growth.

In cases of osteogenesis imperfecta without identified mutations in the COL1A1, COL1A2, CRTAP, or LEPRE1 gene, the cause of the disorder is unknown. These cases include osteogenesis imperfecta types V and VI. Researchers are working to identify additional genes that may be responsible for these conditions.

A person with OI has a 50% chance of passing on the gene and the disease to their children.


Some common symptoms of OI include:

    Triangular-shaped face.

  • Breathing problems.

  • Short stature.

  • Hearing loss.

  • Brittle teeth.

  • Bone deformities, such as bowed legs or scoliosis.


Diagnosis may include:

    Medical History and Physical Examination: Because osteogenesis imperfecta is often inherited, your doctor will discuss family medical history in addition to your child's medical history. Your doctor will also complete a thorough physical examination that includes checking your child's eyes and teeth.

  • Tests: X-rays will provide your doctor with clear images of your child's bones, showing fractures as well as malformations of bone.

  • Genetic testing: Your doctor may take blood or tissue samples for genetic testing. In many cases, these tests are able to identify the mutation, particularly if the parent's mutation is also known.

  • Ultrasound: Ultrasound can often detect severe cases of osteogenesis imperfecta during pregnancy.


In most cases, treatment is nonsurgical.

    Medication. Medical bisphosphonates, given to the child either by mouth or intravenously, slow down bone resorption. In children with more severe osteogenesis imperfecta, bisphosphonate treatment often reduces the number of fractures and bone pain. These medications must be administered by properly trained doctors and require close monitoring.

  • Immobilization. Casting, bracing, or splinting fractures is necessary to keep the bones still and in line so that healing can occur.

  • Exercise. After a fracture, movement and weight bearing are encouraged as soon as the bone has healed. Specific exercises will increase mobility and decrease the risk of future fractures.

  • Low-impact exercise, such as swimming and walking, can help strengthen bones and the muscles that support them. Exercise is part of a healthy lifestyle for every child.

Surgery may be recommended in cases of: Repeated fractures of the same bone, fractures that do not heal properly, bone deformity, such as scoliosis.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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