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What is osteogenesis imperfecta?
How does it affect the feet and legs?
Symptoms
Causes
Diagnosis
Treatment
Exercising with OI
FAQs

Osteogenesis imperfecta is a genetic condition that leads to weak and fragile bones that can break easily, including those in the feet and legs. Great care must be taken to help avoid fractures where possible.

What is Osteogenesis Imperfecta?

Known as brittle bone disease, osteogenesis imperfecta describes a group of genetic disorders that cause our bones to become extremely fragile. This happens because of defects in the genes that make type I collagen - an essential component to the structure of our bones, skin, tendons, and ligaments. This means that the bones can break and fracture easily - and often without a distinct event (like a fall or collision) to ‘explain’ the bone break. 

There are eight types of osteogenesis imperfecta, with each type having its own distinct features, severity level and genetic basis, although they all share the common characteristic of bone fragility.

• Type one: type one is the mildest form of osteogenesis imperfecta where the collagen structure itself is normal, but the amount of collagen that is being produced is less than normal. Those with this type of OI usually have blue tint to their sclerae (the whites of the eyes), loose joints, some muscle weakness, and mild-to-moderate bone fragility. Fractures may occur but are typically fewer in number and less severe compared to other types of OI. Here, a person’s lifespan is typically normal.
  

• Type two: type two is the most severe form and is often fatal shortly after birth, or in some cases during pregnancy. Infants with type two OI have extremely fragile bones, multiple fractures at birth, and often have skeletal abnormalities. Type two is caused by variations or mutations in specific genes (COL1A1 and COL1A2 genes) that encode type one collagen production.
  

• Type three: type three OI, also known as severe or progressively deforming OI, is characterised by severe bone fragility, multiple fractures at birth, and progressive bone deformities. Those with type three OI often have short stature, respiratory problems, moderate to severe scoliosis, and other complications.
  

• Type four: type four is moderate in severity. Those with this type of OI experience moderate-to-severe bone fragility, multiple fractures, and bone deformities. A short stature is common, as are other skeletal abnormalities.
  

• Type five: type five OI is characterised by mild-to-moderate bone fragility, multiple fractures, and bone deformities similar to type four. Those with type five OI also tend to develop unusually large calluses at the sites of fractures or surgical procedures. They may also develop calcifications of the interosseous membrane (a membrane between bones in the forearm), leading to a "popcorn" appearance on x-rays. 
  

• Type six: type six is a rare form of OI characterised by moderate-to-severe bone fragility and mineralisation defects. Those with type six OI may have a translucent appearance of bones on x-rays due to decreased bone mineral density. Other symptoms are similar to other types of OI.
  

• Type seven: type seven is another rare form caused by mutations in the CRTAP gene. It is characterised by severe bone fragility, multiple fractures, and bone deformities. Those with type seven OI may also experience joint laxity and other skeletal abnormalities.
  

• Type eight: type eight is an extremely rare form of OI caused by mutations in the PPIB gene. It is characterised by severe bone fragility, multiple fractures, and bone deformities similar to other types of OI. Individuals with type eight OI may also have joint contractures and other complications.
  

How Does Osteogenesis Imperfecta Affect the Feet and Legs?

Osteogenesis imperfecta (OI) can have various effects on the feet and legs due to the fragility and deformities of bones associated with the condition. Fractures are a common occurrence, often happening from minor trauma or regular activities like walking or running. These fractures can lead to pain, difficulty walking, and other complications.

OI can also cause bone deformities in the feet and legs, such as bowing of the legs (genu varum) or knock knees (genu valgum). A short stature is another common feature of OI, which can impact the length of the legs. Shorter legs may affect gait and mobility, further complicating the challenges that those with OI face in daily activities. Joint laxity, or hypermobility, is also prevalent in individuals with OI, making the feet and ankles more prone to instability and injuries. This increased flexibility in the joints can contribute to difficulties with balance and may require supportive measures such as orthotics or braces to provide stability.

Foot deformities are fairly common in OI, including flat feet (pes planus), high arches (pes cavus), and abnormalities in toe alignment. These deformities can affect overall foot function and comfort.

Symptoms Of Osteogenesis Imperfecta in the Feet and Legs

Symptoms that our podiatrists see in the feet and legs include:

• Fractures: those with OI have an increased susceptibility to fractures. Even minor trauma or routine activities like walking can result in fractures in the feet or legs. These fractures may cause pain, swelling, and difficulty bearing weight, leading to limitations in mobility.
  

• Bone deformities: OI can lead to several bone deformities in the feet and legs, including bowing of the legs (genu varum) or knock knees (genu valgum). These deformities can affect the alignment of the lower limbs, leading to gait abnormalities and challenges with mobility.
  

• A short stature: having a short stature is a common characteristic of OI, which can affect the length of the legs. Shorter legs may impact gait mechanics and overall mobility, potentially contributing to difficulties in performing daily activities.
  

• Joint laxity: those with OI often experience joint laxity or hypermobility, particularly in the feet and ankles. This increased flexibility can result in joint instability and predispose a person to sprains, strains, and other injuries.
  

• Foot deformities: OI can lead to various foot deformities, including flat feet (pes planus), high arches (pes cavus), and abnormalities in toe alignment. These deformities can affect a person’s weight distribution on their feet, balance, and overall foot function, resulting in discomfort and difficulties with walking.
  

• Orthopaedic complications: in severe cases of OI, a person may develop orthopaedic complications such as scoliosis (abnormal curvature of the spine), which can indirectly affect the alignment and function of the feet and legs.
  

• Delayed milestones: children with OI may experience delays in reaching developmental milestones related to mobility, such as walking. 
  

• Chronic pain: chronic pain in the feet and legs is not uncommon in those with OI, especially those with frequent fractures or severe bone deformities. This pain can significantly impact a person’s quality of life.
  

What Causes Osteogenesis Imperfecta?

Osteogenesis imperfecta is primarily caused by various genetic mutations that affect the production of collagen, a protein essential for bone strength and structure. In most cases, OI is inherited from one or both parents who carry the defective gene.

The genetic defect results in reduced production or abnormal structure of collagen, leading to weakened bones that are prone to fractures. Collagen provides a framework for bone formation and helps to maintain bone density and resilience, so when collagen is deficient or faulty, the bones become fragile and susceptible to breakage, even with minimal force or trauma.

While most cases of OI are inherited from parents who carry the defective gene, it is also possible for the genetic mutation to occur spontaneously, without any family history of the condition. This means that a child may develop OI due to a new mutation that arises in their genes during conception, even if neither parent carries the defective gene.

Diagnosing Osteogenesis Imperfecta

While osteogenesis imperfecta often has symptoms in the feet and legs, it is a systemic condition that impacts the entire body, so it is likely that the condition may be diagnosed or suspected long before you see a podiatrist to improve your comfort, stability and function on your feet.

If a baby is born with multiple fractures, or if a person is prone to repeated bone breaks early in life (typically in infancy), then a diagnosis may be made based on these findings paired with a family history and the results of any testing such as medical imaging (x-rays), blood work, bone biopsies, DEXA scans or other tests. 

Genetic testing can confirm a diagnosis of OI and identify specific mutations in genes associated with collagen production, such as COL1A1 and COL1A2. This provides valuable information about the subtype of OI that a person has, guiding tailored treatment and management strategies.

Treating Osteogenesis Imperfecta

While osteogenesis imperfecta cannot be ‘cured’, there’s a lot that can be done to improve the quality of life of those with OI, support their mobility, and reducing the risk of fractures and other complications. Given the potential effects of osteogenesis imperfecta on the body, as well as the variety in symptom severity based on the type that a person has, the best management approach must be taken on a case-by-case basis.

We’ve broken down the management options for OI into two categories: general treatment options and podiatry-related treatment options.

General treatment

• Medical management, which often includes bisphosphonates to help increase bone density and reduce the risk of fractures. These medications work by inhibiting bone resorption, thereby strengthening bones. Other medications, such as teriparatide, may also be considered in certain cases to stimulate bone formation.
  
• Occupational therapy to learn how to reduce the fracture risks within the home or work environment
  
• Physical therapy plays a crucial role in managing OI by improving muscle strength, joint stability, and overall mobility. Therapeutic exercises can help individuals with OI develop better balance, coordination, and bone-loading techniques to minimise the risk of fractures.
  
• Orthopaedic care: working with an orthopaedic surgeon for bones that need repair, whether that’s following a fracture or from bone curving or bowing, can be of great benefit to those with more severe OI types. Many children with OI have rodding surgery, in which a metal rod is placed into a bone to prevent it from breaking.
  
• Regular monitoring and follow-up: those with OI require regular monitoring by healthcare professionals to assess bone health, monitor growth and development, and adjust treatment as needed. Regular follow-up visits allow for early detection of complications and timely intervention.
  
• Nutritional support: adequate nutrition is essential for individuals with OI to support bone health and overall growth. A balanced diet rich in calcium, vitamin D, and other nutrients important for bone metabolism is recommended. In some cases, nutritional supplements may be prescribed to ensure optimal bone health.
  
• Education and support for those with OI (and their families) is crucial for understanding the condition, managing symptoms, and navigating daily challenges. Support groups, counselling, and access to resources and information can provide valuable emotional and practical support for individuals living with OI.
  
• Oral, dental and hearing care - as osteogenesis imperfecta can have notable impacts on these areas, too.
  

Podiatrist treatment

Our Brisbane podiatrists work with those with osteogenesis imperfecta across all ages. We often use:

• Custom-made foot orthotics, where a person is walking or weight bearing on their feet, to help redistribute pressure more evenly across the foot and limit areas of excess pressure that would be prone to fracturing. For those with milder OI that stay fairly active, we may also prescribe the orthotics to help improve their lower limb function, efficiency and stability to support their gait and reduce the risk of falls and other injuries.
  
• Braces, splints or other mobility aids: we have a wide range of lower limb mobility aids that can support a person with OI, whether that’s to prevent further injury, support healing and repair, or help facilitate movement. The best brace option for you will depend on your symptom severity and risk factors, and your podiatrist will discuss all of your options at your appointment.
  
• Footwear review to ensure your shoes are doing the best job of keeping you safe, and not unintentionally contributing to your injury risk.
  
• Footwear modifications to help your shoes do their best job of keeping you safe, preventing fractures, and optimising your mobility. We are proud to be one of the only podiatry teams to offer this service in-house to help you get the best results.
  
• Stretching and strengthening programs to best support your lower limb strength and function to help reduce your injury risk.
  
• Advice and education around physical activity, given that staying active is an important way to help reduce skeletal deformity and fracture risk
  

Exercising With Osteogenesis Imperfecta

Adopting a balanced approach to physical activity is essential for individuals with OI. While it's important to stay active to promote overall health and mobility, it's equally important to engage in activities that are safe and appropriate for a person’s unique symptoms and the severity of their OI. Low-impact exercises such as swimming, cycling, and gentle stretching can help improve muscle strength, joint flexibility, and bone density without placing excessive stress on fragile bones.

Frequently Asked Questions

Can OI affect adults as well?

Yes, osteogenesis imperfecta can affect people of all ages, including adults. While it is commonly diagnosed in childhood due to frequent fractures and skeletal abnormalities, OI continues to impact a person throughout their lives - it never ‘goes away’ and is not curable. Adults with OI may experience ongoing bone fragility, fractures, joint problems, and other complications associated with the condition. The good news is that with appropriate medical management and support, many adults with OI lead active and fulfilling lives.

What are the long-term complications of OI in the feet and legs?

Long-term complications of OI in the feet and legs can include chronic pain, joint deformities, arthritis, and mobility limitations. Those with OI may also be at increased risk of developing stress fractures, osteoarthritis, and other musculoskeletal problems over time. Proper management and preventive measures, such as orthotics, supportive footwear, and regular monitoring by healthcare professionals like podiatrists, can help mitigate these complications and optimise foot and leg function.

Are there any preventive measures for OI-related fractures?

Absolutely. This includes maintaining a safe home and work environment to minimise falls and accidents, avoiding high-impact activities that pose a risk of trauma to fragile bones, practising proper body mechanics and lifting techniques, and engaging in regular physical activity to promote bone strength and overall health. Additionally, medications such as bisphosphonates may be prescribed to improve bone density and reduce fracture risk in some individuals with OI.

How can I support a loved one with OI?

Supporting a loved one with osteogenesis imperfecta (OI) involves understanding their unique needs and challenges and providing practical and emotional support. This may include helping to create a safe and accessible home environment, assisting with activities of daily living, encouraging independence and self-advocacy, and being an empathetic listener and source of encouragement. Additionally, educating yourself and others about OI, advocating for accessibility and inclusion, and connecting with support groups and resources can help you better support your loved one with OI.

Is there ongoing research for new treatments or therapies for OI?

Yes, there is ongoing research aimed at developing new treatments and therapies for osteogenesis imperfecta (OI). This research encompasses various areas, including gene therapy, stem cell therapy, pharmacological interventions, and novel approaches to improve bone health and function. Clinical trials and studies are underway to evaluate the safety and efficacy of potential treatments for OI, with the ultimate goal of improving outcomes and quality of life for individuals living with the condition.