Brittle Bone Disease (Osteogenesis Imperfecta)

A few people with dominant osteogenesis imperfecta have no family history of it. In this case, you probably developed the mutation while you were growing as a fetus inside your mom.

Some people have recessive osteogenesis imperfecta. This means you inherited a mutated gene for collagen from each of your parents. In this case, the mutated gene isn't stronger than the normal gene. So, it's possible that your parents didn't know they had a mutated copy of this gene because they don't have the condition themselves. It's most likely that they each have a normal copy of the gene that's stronger than the mutated gene, protecting them from developing signs and symptoms of the condition.

If you have recessive osteogenesis imperfecta, you have a 100% chance of passing this mutated gene to your biological children. But because the mutated gene isn't stronger than the normal gene, your children may not develop the condition unless your co-parent also has it. But it's very rare for both parents to have the same mutations.

Osteogenesis Imperfecta Types

Doctors use several ways of classifying osteogenesis imperfecta, based on the signs and symptoms you have and which of your genes are affected. Depending on the classification system your doctor uses, there are about 8-19 different types of osteogenesis imperfecta. But it's not always very clear which type you have; many people with the condition don't fit clearly into one of these types. And you may not have all the signs and symptoms of a particular type. 

Your doctor will tailor your treatment to your specific situation and lifestyle. However, the type can give you and your doctor a starting place for understanding your condition and your treatment needs.

The most common types include:

Osteogenesis imperfecta type 1

About 50% of people with osteogenesis imperfecta have type 1, making it the most common type. It's also the mildest type.

People with type 1 typically have few obvious signs or symptoms. You will usually have no bone deformities and will be a similar height as your other family members. You may have only a few fractures throughout your life, although you may be more prone to joint dislocations and sprains. This is because joint looseness and muscle weakness are common with this type. You may also have flat feet.

Since this type has the mildest symptoms, people with it usually have an average life span.

Osteogenesis imperfecta type 2

It is the most severe type. Infants with type 2 usually have a small body, with a head that may be too large for their size. Their birth weight may be low. They are typically born with:

• Many broken bones
• A very soft skull
• An unstable neck
• A small chest, often with lungs that have not developed fully
• Arms and legs that are much shorter than expected

Because their lungs are often not well developed, babies born with this type may die within weeks of birth.

Osteogenesis imperfecta type 3

It is the next most severe form after type 2. People with type 3 are also usually born with broken bones. An X-ray may show broken bones in their arms, legs, and ribs that healed while they were still developing in the uterus. People with type 3 may have several dozen to several hundred fractures over the course of their life. Other signs and symptoms include:

• A short stature
• A large head
• A triangle-shaped face
• Deformities in their chest and spine
• Spinal curvature (scoliosis) and deformities in the bones of their arms and legs that get worse over time and may need surgery to correct
• A barrel-shaped rib cage

People with type 4 tend to have an average life span.

Osteogenesis imperfecta type 5

This is another moderate severity type that has very similar symptoms and appearance to type 4. However, your doctor will be able to see signs typical of this type on an X-ray where you've had a broken bone. One key sign is called a hypertrophic callus, which shows that your bone isn't healing normally after a break. You may also have trouble rotating your forearms because of hardening of the membrane between the two bones (the ulna and the radius) in your forearms.

Osteogenesis Imperfecta Symptoms

The main symptom of brittle bone disease is weak bones that break easily, even with light pressure. For instance, your child may have a bone break during a diaper change, when being burped, or when they begin to stand and walk on their own. 

People with this condition may have only a few broken bones in a lifetime, or they may have hundreds of them. Sometimes, babies with this condition are born with fractures that happened while they were developing in their mother’s uterus or during birth. Other times, you may not have bone breaks until you're a teenager or young adult. 

The symptoms vary from person to person; they may be mild or very severe. Other than broken bones, your symptoms may include:

• Malformation or bowing outward of your long bones, such as your upper arm and thigh bones
• Height that is shorter than that of others in your family
• Easily bruised skin
• Loose joints
• Weak muscles
• The normally white part of your eyes may look blue, purple, or gray
• A triangle-shaped face
• A barrel-shaped rib cage
• A curved spine (scoliosis)
• Collapse or compression of the bones in your spine
• Brittle, oddly shaped, or discolored teeth
• Misalignment of your teeth
• Hearing loss
• Breathing problems
• A deformed hip joint (coxa vara)
• Joints that stay permanently bent or straight (joint contracture)

Osteogenesis Imperfecta Diagnosis

In some cases, your obstetrician may suspect your baby has osteogenesis imperfecta from ultrasound images. They may confirm this before birth using genetic testing on cells they've gathered with amniocentesis. Or, they may wait until after birth to perform genetic testing. 

Because you will likely have broken bones at a very young age, most people are diagnosed as an infant or child.

To diagnose you or your child, your doctor will usually start by asking about your medical and family history and your or your child's symptoms. They will also do a physical exam.

To help them with their diagnosis, they may also recommend diagnostic tests such as:

• X-rays to see if you have fractures, healed fractures, weak spots, or deformed bones.
• A dual-energy X-ray absorptiometry (also called DXA or DEXA) scan to check your bone density or solidity.
• Lab tests of your b lood, spit, or pee. These tests can help rule out other health conditions that cause weak bones, such as rickets .
• Genetic blood testing to see if you have a mutated copy or copies of the genes COL1A1 or COL1A2. If not, you may need additional genetic tests to see if you have mutations in other genes that affect your bone structure. Your doctor may also recommend your parents and siblings get genetic testing to see if they carry any mutations in these genes.
• A bone biopsy, usually from your hip. This can show if you have any characteristic changes in the structure or healing of your bones that may point to a specific type of osteogenesis imperfecta.

Osteogenesis Imperfecta Treatment

Unfortunately, there's no cure for brittle bone disease. So, your treatment goals are to:

• Prevent or control your symptoms
• Increase your bone mass and muscle strength
• Maximize your ability to live independently

To help you meet these goals, your doctor may recommend:

Medicines

Studies are always ongoing, but there are no FDA-approved medicines yet to treat osteogenesis imperfecta specifically. However, some medicines used for other conditions with similar symptoms may help you. Your doctor may suggest you try:

• Bone-strengthening medicines, such as bisphosphonates, which may help reduce the frequency and severity of broken bones
• Pain medicine to help manage the pain from fractures and long-term bone pain

Bone care

Bone care for osteogenesis imperfecta mostly takes the form of treating broken bones by casting, splinting, or bracing. But it could also mean surgery to repair broken bones if needed. Your doctor may also recommend you see an orthopedic specialist if you have bones that are curved or bowed. For instance, some children may have rodding surgery. In this type of surgery, a metal rod is fitted into the bone to offer support and prevent fractures. These rods may be telescoping, which means they can be lengthened as your child grows.

Hearing care

People with some types of brittle bone disease may also have an increased risk of hearing loss. So, doctors usually recommend people with the condition get their hearing tested periodically throughout their life. It's best to have this testing done by an audiologist who specializes in caring for people with osteogenesis imperfecta. They have many options available to help people who may be losing some of their hearing, including:

• Hearing aids
• Cochlear implants, which are small electronic devices that can help you perceive sound if you have lost most of your hearing
• Stapedectomy, which is a surgery to replace a small bone in your middle ear with a prosthetic device to help improve your hearing

Breathing care

Some people with osteogenesis imperfecta have trouble breathing because the condition can affect the way your lungs develop. Your doctor may prescribe you supplemental oxygen and refer you to a pulmonologist to help manage your lung health.

Brittle Bone Disease Complications

Your risk for any complications depends largely on the type of osteogenesis imperfecta you have and how much your symptoms affect you. Complications may include:

• Heart disease and heart failure
• Frequent pneumonia infections
• Trouble breathing, including respiratory failure, which is when you're not getting enough oxygen or have too much carbon dioxide in your body
• Nervous system issues caused by spinal cord compression or spine fractures

Parenting a Child With Brittle Bone Disease

Babies and children with brittle bone disease may get broken bones from things as gentle as changing their diaper or picking them up. 

Babies with this condition may need very careful support and handling. For instance:

• Don't lift the baby by pulling them up from under their armpits. Lift by putting one hand under their butt and legs and the other hand under their shoulders, neck, and head. You want to support the weight of their body and limbs as equally as possible as you lift.
• When changing their diaper, don't lift their legs from the ankles. Slide your hand under their butt and support their weight as you lift their backside.
• Take reasonable precautions, but don't restrain them. Allow the baby to have free movement. This will help them develop their muscles as they find ways of moving and positioning their body that feel comfortable for them.
• Support the baby in a variety of positions throughout the day. For instance, support them as they lay on their side, back, and stomach. This also helps them develop the muscles they need to sit, stand, and walk independently.

It can be challenging to support a child with a lifelong condition. A helpful goal to focus on is to help them develop the skills they need to live a healthy life as independently as possible. Here are some things to think about when you're taking care of a child with the condition:

• Keep up with all their medical care and therapy visits.
• Follow the doctor's advice when giving medicines. Since many people with the condition are smaller than other people their age, your doctor will likely recommend you dose their medicines according to your child's weight rather than their age.
• Help your child learn about their condition and how to adjust to their health care needs as they grow.
• Stay active together as a family. Choose family activities that they can fully participate in.
• Help them find activities and interests that are safe and that they love. For instance, you may encourage them to learn a musical instrument, learn to code, journal, create art, or build models.
• Don't pull, push, or bend their arms or legs. If possible, get them to position their body in the way you need it for caretaking.
• If you think they have a broken bone, avoid touching or moving that body part as much as possible. Help them be as still as they can comfortably be while you get them to the doctor.
• Listen to what your child is telling you. Even very young children with osteogenesis imperfecta can develop a good sense of their own body and the ways of moving that may injure them. For instance, they may develop the ability to tell if one of their bones is broken before your doctor does an exam or X-ray.
• Consider joining a support group for parents of kids with osteogenesis imperfecta. When they're old enough, encourage your child to consider a support group.

Living With Brittle Bone Disease

If you're living with brittle bone disease, you can help support yourself by taking good care of your body, including taking steps to keep your bones healthy. For instance:

• Eat a variety of foods that are rich in vitamin D and calcium. For most people with osteogenesis imperfecta, 800-1,000 milligrams of calcium per day is a good goal. Your skin will make vitamin D with some sun exposure every day, but you may need to take care with sun exposure. The condition can also make your skin thinner and more fragile. Your doctor may recommend you take vitamin D supplements, but you generally shouldn't take more than 800 IU per day. 
• Talk to your doctor and physical therapist about a safe exercise program. Stay active, but take care not to injure yourself.
• Try to maintain a healthy weight. Too much weight adds stress to your bones. Walking, swimming, and wheeling are good, low-impact ways of keeping your weight in a healthy range.
• Don't smoke, and avoid secondhand smoke.
• Avoid alcohol, or drink it only occasionally.
• Cut back on caffeine.
• Talk to your doctor about healthy ways of managing any pain you have.
• Get your hearing tested at least every three years and your vision tested every two to three years.
• Get your bone density tested every one to two years.
• Get your lung function tested every one to two years.
• Work with your doctor to keep any other health conditions you have under control, such as high blood pressure, high cholesterol, arthritis, or hormone problems.
• Get a baseline heart evaluation, including an EKG if your doctor recommends it.
• Take care to avoid getting an upper respiratory infection, including a cold. If you do get a respiratory infection, get treatment as soon as possible. Many people with osteogenesis imperfecta are prone to pneumonia. 
• Avoid using steroid medications, unless your doctor thinks it's necessary. Long-term use of steroids can reduce your bone density.
• Take as much care of your mental health as you do your body. It can be stressful to care for yourself when you have a long-term health condition. Consider joining a support group, seeing a therapist, practicing mindfulness or meditation, or getting involved in an advocacy group for people with osteogenesis imperfecta.

Takeaways

Osteogenesis imperfecta, or brittle bone disease, is a rare genetic condition that makes your bones thin, fragile, and easily broken. It's usually something you inherit from one (or rarely, both) of your parents. There are several types of the condition, with symptoms varying in severity from person to person. Because it can cause frequent broken bones at a very young age, you will most likely be diagnosed when you're an infant or child. Currently, there aren't any specific treatments for the condition. But your doctor can help you manage your symptoms using several approaches, such as bone-strengthening medicines, physical and occupational therapy, and mobility aids.

Brittle Bone Disease FAQs

Is brittle bone disease a disability?

Whether or not it's a disability depends on what symptoms you have and how much they affect your ability to function. The most common form of brittle bone disease, type 1, usually causes mild symptoms that may not impact your day-to-day functioning very much. But some types may cause disabilities.

How common is brittle bone disease?

Brittle bone disease is a rare condition. Worldwide, it affects about one out of every 20,000 people born.