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Brittle Bone Disease (Osteogenesis Imperfecta)

Causes
Types
Symptoms
Diagnosis
Treatment
Outlook

What Is Brittle Bone Disease?
Brittle bone disease is a disorder that results in fragile bones that break easily. It’s present at birth and usually develops in children who have a family history of the disease.

The disease is often referred to as osteogenesis imperfecta (OI), which means “imperfectly formed bone.”

Brittle bone disease can range from mild to severe. Most cases are mild, resulting in few bone fractures. However, the severe forms of the disease can cause:

hearing loss
heart failure
spinal cord problems
permanent deformities

OI can sometimes be life-threatening if it occurs in babies either before or shortly after birth. Approximately one person in 20,000 will develop brittle bone disease. It occurs equally among males and females and among ethnic groups.

What Causes Brittle Bone Disease?

Brittle bone disease is caused by a defect, or flaw, in the gene that produces type 1 collagen, a protein used to create bone. The defective gene is usually inherited. In some cases, however, a genetic mutation, or change, can cause it.

What Are the Types of Brittle Bone Disease?

Four different genes are responsible for collagen production. Some or all of these genes can be affected in people with OI. Defective genes can produce eight types of brittle bone disease, labeled as type 1 OI through type 8 OI. The first four types are the most common. The last four are extremely rare, and most are subtypes of type 4 OI. Here are the four main types of OI:

Type 1 OI
Type 1 OI is the mildest and most common form of brittle bone disease. In this type of brittle bone disease, your body produces quality collagen but not enough of it. This results in mildly fragile bones. Children with type 1 OI typically have bone fractures due to mild traumas. Such bone fractures are much less common in adults. The teeth may also be affected, resulting in dental cracks and cavities.

Type 2 OI
Type 2 OI is the most severe form of brittle bone disease, and it can be life-threatening. In type 2 OI, your body either doesn’t produce enough collagen or produces collagen that’s poor quality. Type 2 OI can cause bone deformities. If your child is born with type 2 OI, they may have a narrowed chest, broken or misshapen ribs, or underdeveloped lungs. Babies with type 2 OI can die in the womb or shortly after birth.

Type 3 OI
Type 3 OI is also a severe form of brittle bone disease. It causes bones to break easily. In type 3 OI, your child’s body produces enough collagen but it’s poor quality. Your child’s bones can even begin to break before birth. Bone deformities are common and may get worse as your child gets older.

Type 4 OI
Type 4 OI is the most variable form of brittle bone disease because its symptoms range from mild to severe. As with type 3 OI, your body produces enough collagen but the quality is poor. Children with type 4 OI are typically born with bowed legs, although the bowing tends to lessen with age.

What Are the Symptoms of Brittle Bone Disease?
The symptoms of brittle bone disease differ according to the type of the disease. Everyone with brittle bone disease has fragile bones, but the severity varies from person to person. Brittle bone disease has one or more of the following symptoms:

bone deformities
multiple broken bones
loose joints
weak teeth
blue sclera, or a bluish color in the white of the eye
bowed legs and arms
kyphosis, or an abnormal outward curve of the upper spine
scoliosis, or an abnormal lateral curve of the spine
early hearing loss
respiratory problems
heart defects
How Is Brittle Bone Disease Diagnosed?
Your doctor can diagnose brittle bone disease by taking X-rays. X-rays allow your doctor to see current and past broken bones. They also make it easier to view defects in the bones. Lab tests may be used to analyze the structure of your child’s collagen. In some cases, your doctor may want to do a skin punch biopsy. During this biopsy, the doctor will use a sharp, hollow tube to remove a small sample of your tissue.

Genetic testing can be done to trace the source of any defective genes.

How Is Brittle Bone Disease Treated?
There’s no cure for brittle bone disease. However, there are supportive therapies that help reduce your child’s risk of broken bones and increase their quality of life. Treatments for brittle bone disease include:

physical and occupational therapy to increase your child’s mobility and muscle strength
bisphosphonate medications to strengthen your child’s bones
medicine to reduce any pain
low-impact exercise to help build bone
surgery to place rods in your child’s bones
reconstructive surgery to correct bone deformities
mental health counseling to help treat issues with body image

What Is the Long-Term Outlook for Someone with Brittle Bone Disease?

The long-term outlook varies depending on the type of brittle bone disease. Outlooks for the four main types of brittle bone disease are:

Type 1 OI
If your child has type 1 OI, they can live a normal life with relatively few problems.

Type 2 OI
Type 2 OI is often fatal. A child with type 2 OI may die in the womb or shortly after birth from respiratory problems.

Type 3 OI
If your child has type 3 OI, they may have severe bone deformities and often require a wheelchair to get around. They usually have shorter lifespans than people with type 1 or 4 OI.

Type 4 OI
If your child has type 4 OI, they may need crutches to walk. However, their life expectancy is normal or close to normal.



Rickets
Risk factors
Symptoms
Diagnosis
Treatment
Outlook
Prevention

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What is rickets?

Rickets is a skeletal disorder that’s caused by a lack of vitamin D, calcium, or phosphate. These nutrients are important for the development of strong, healthy bones. People with rickets may have weak and soft bones, stunted growth, and, in severe cases, skeletal deformities.

Vitamin D helps your body absorb calcium and phosphate from your intestines. You can get vitamin D from various food products, including milk, eggs, and fish. Your body also produces the vitamin when you’re exposed to sunlight.

A vitamin D deficiency makes it difficult for your body to maintain sufficient levels of calcium and phosphate. When this occurs, your body produces hormones that cause calcium and phosphate to be released from your bones. When your bones lack these minerals, they become weak and soft.

Rickets is most common in children who are between 6 and 36 months old. Children are at the highest risk of rickets because they’re still growing. Children might not get enough vitamin D if they live in a region with little sunlight, follow a vegetarian diet, or don’t drink milk products. In some cases, the condition is hereditary.

Rickets is rare in the United States. Rickets used to be more common, but it mostly disappeared in developed countries during the 1940s due to the introduction of fortified foods, such as cereals with added vitamin D.

Who is at risk for developing rickets?
Risk factors for rickets include the following:

Age
Rickets is most common in children who are between 6 and 36 months old. During this time period, children usually experience rapid growth. This is when their bodies need the most calcium and phosphate to strengthen and develop their bones.

Diet
You have a higher risk of developing rickets if you eat a vegetarian diet that doesn’t include fish, eggs, or milk. You’re also at an increased risk if you have trouble digesting milk or have an allergy to milk sugar (lactose). Infants who are only fed breast milk can become deficient in vitamin D as well. Breast milk doesn’t contain enough vitamin D to prevent rickets.

Skin color
Children of African, Pacific Islander, and Middle Eastern descent are at the highest risk for rickets because they have dark skin. Dark skin doesn’t react as strongly to sunlight as lighter skin does, so it produces less vitamin D.

Geographic location
Our bodies produce more vitamin D when they’re exposed to sunshine, so you’re more at risk for rickets if you live in an area with little sunlight. You’re also at a higher risk if you work indoors during daylight hours.

Genes
One form of rickets can be inherited. This means that the disorder is passed down through your genes. This type of rickets, called hereditary rickets, prevents your kidneys from absorbing phosphate.

What are the symptoms of rickets?
Symptoms of rickets include:

pain or tenderness in the bones of the arms, legs, pelvis, or spine
stunted growth and short stature
bone fractures
muscle cramps
teeth deformities, such as:
delayed tooth formation
holes in the enamel
abscesses
defects in the tooth structure
an increased number of cavities
skeletal deformities, including:
an oddly shaped skull
bowlegs, or legs that bow out
bumps in the ribcage
a protruding breastbone
a curved spine
pelvic deformities
Call your doctor right away if your child is showing signs of rickets. If the disorder isn’t treated during a child’s growth period, the child may end up with a very short stature as an adult. Deformities can also become permanent if the disorder goes untreated.

How is rickets diagnosed?
Your doctor may be able to diagnose rickets by performing a physical examination. They will check for tenderness or pain in the bones by lightly pressing on them. Your doctor may also order certain tests to help make a rickets diagnosis, including:

blood tests to measure the levels of calcium and phosphate in the blood
bone X-rays to check for bone deformities
In rare cases, a bone biopsy will be performed. This involves the removal of a very small section of bone, which will be sent to a laboratory for analysis.

How is rickets treated?
Treatment for rickets focuses on replacing the missing vitamin or mineral in the body. This will eliminate most of the symptoms associated with rickets. If your child has a vitamin D deficiency, your doctor will likely want them to increase their exposure to sunlight, if possible. They will also encourage them to consume food products high in vitamin D, such as fish, liver, milk, and eggs.

Calcium and vitamin D supplements can also be used to treat rickets. Ask your doctor about the correct dosage, as it can vary based on the size of your child. Too much vitamin D or calcium can be unsafe.

If skeletal deformities are present, your child may need braces to position their bones correctly as they grow. In severe cases, your child may need corrective surgery.

For hereditary rickets, a combination of phosphate supplements and high levels of a special form of vitamin D are required to treat the disease.

What can be expected after treatment for rickets?
Increasing vitamin D, calcium, and phosphate levels will help correct the disorder. Most children with rickets see improvements in about one week.

Skeletal deformities will often improve or disappear over time if rickets is corrected while the child is still young. However, skeletal deformities can become permanent if the disorder isn’t treated during a child’s growth period.

How can rickets be prevented?
The best way to prevent rickets is to eat a diet that includes adequate amounts of calcium, phosphorous, and vitamin D. People with kidney disorders should have their calcium and phosphate levels monitored on a regular basis by their doctors.

Rickets can also be prevented with moderate sun exposure. According to the National Health Service of England (NHS), you only need to expose your hands and face to sunlight a few times a week during the spring and summer months to prevent rickets.

Most adults get enough exposure to sunlight. It’s important to note that too much sunlight can damage your skin, and sunscreen should be applied to prevent burns and skin damage. Sometimes, the use of sunscreen can prevent your skin from producing vitamin D, so it’s beneficial to eat foods that contain vitamin D or to take vitamin D supplements. These preventive measures can significantly lower your risk of developing rickets.

10 Foods That Build Strong Bones
Leafy greens
Salmon
Tuna
Catfish
Almond butter
Cheese
Yogurt
Eggs
Broccoli
Milk
Takeaway
Nutrients for bone health

Many nutrients are involved in keeping bones healthy. Calcium and vitamin D are two of the most important.

Calcium is a mineral that’s essential to your body functioning properly and is stored in your bones. Your body needs vitamin D to absorb calcium. Not getting enough calcium in your diet can lead to fragile, brittle bones that are more prone to fractures and disease.

Vitamin K, vitamin C, magnesium, and phosphorus are other important nutrients for bone health.

1. Dark, leafy greens
Dark, leafy greens, such as kale, arugula, watercress, and collard greens, are perhaps the best nondairy sources of calcium. These greens are also high in magnesium, which is helpful for maintaining bone integrity, and vitamin K, which is needed for bone metabolism.

Although spinach is usually included in this group, it contains oxalic acid, which makes the human body unable to absorb its calcium.

2. Salmon
The sun is our main source of vitamin D. However, eating fatty fish such as salmon is another great way to get vitamin D.

According to the National Institutes of Health (NIH)Trusted Source, one 3-ounce serving of salmon will provide you with 447 international units (IU) of vitamin D. The recommended minimum intake of vitamin D is 400 IU daily.

Canned salmon includes the softer (edible) bones of the fish, meaning it’s loaded with calcium.

3. Tuna
Tuna is another fatty fish loaded with healthful vitamin D. It also contains high amounts of other beneficial nutrients like potassium, magnesium, and omega-3 fatty acids. And because it comes canned, it’s easy to find, easy on the wallet, and simple to add to your diet.

4. Catfish
While we’re on fish, you can’t go wrong with catfish. It’s perhaps the least expensive variety of fish, and it’s also one of the highest in vitamin D, containing 425 IU in one 3-ounce filetTrusted Source.

5. Almond butter
Of all the tree nuts you can find at the grocery store, almonds have the highest amount of calcium per serving. You can get the same calcium benefits in butter form. As a bonus, almond butter has no cholesterol and is lower in fat and higher in protein than peanut butter.

6. Cheese
It’s pretty simple: Cheese is made from milk. Milk has lots of calcium. Ergo, cheese has lots of calcium.

With a wide variety to choose from, mozzarella is particularly high in calcium. For a healthier option, try cheese made from skim milk.

7. Yogurt
Yogurt is an ancient culinary product, dating back as far as 2,000 B.C. Due to yogurt’s preparation process, this dietary staple actually contains significantly more calcium than the milk from which it’s made. One 8-ounce serving of low-fat yogurt provides a full 42 percent of your daily calcium needs, according to the NIHTrusted Source.

8. Eggs
Good news for breakfast lovers: Eggs contain a nice amount of vitamin D and can improve bone health. Vitamin D is found in the yolks only, so if you tend to eat egg white omelets, you’ll have to get your vitamin D elsewhere.

Another breakfast item, orange juice, is often fortified with vitamin D and calcium.

9. Broccoli
Of all the nondairy sources of calcium out there, broccoli is second to dark, leafy greens. And broccoli isn’t only bone-healthy — it’s an excellent source of vitamin C, fiber, and nutrients that contain cancer-fighting properties.

10. What about milk?
So, what about milk?

One cup of milk has about 30 percent of the calcium you need daily, according to the NIHTrusted Source. On top of that, the milk that’s sold in stores is typically fortified with vitamin D, making it a double-whammy when it comes to bone health.

However, there has been some speculation that milk may actually deplete the bones of vital nutrients. A 2014 studyTrusted Source showed there was no correlation between milk consumption during teenage years and decreased risk of hip fractures in older adults.

However, one 2011 meta-analysisTrusted Source of cohort studies showed no association between milk intake and hip fracture in women, but stated more data needed to be done on men.

Research is mixed and more studies need to be done to find a concrete answer.

More ways to improve bone health
As you age, your body will continue to need calcium, vitamin D, and other nutrients to keep your bones strong and dense. Getting enough bone-supporting nutrients in your diet is perhaps the most important thing you can do to keep them strong and healthy.

But it’s not the only thing you can — or should — do. Check out these 10 tips to increase bone strength, and read about these 7 common osteoporosis myths so that you can be better informed about your bone health
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What’s the Difference Between a Fracture and a Break?
Causes
Symptoms
Diagnosis
Treatment
Outlook
Prevention
Fracture versus break

You may have heard people talk about bone fractures and breaks. The terms are actually interchangeable and both refer to a bone that has been shattered, often by excessive force. Your doctor may be more likely to use the term fracture.

Fractures are usually not life-threatening, but they need immediate medical treatment.

What causes a fracture?
Bone injuries are common. In the United States, more than 1 million people a year fracture a bone.

A fracture occurs when a bone is struck by something stronger than the bone itself. This causes it to break. Car accidents, sports injuries, and falls are common causes of fractures.

Repeated wear on a bone, such as from running, can also cause small fractures. These are called stress fractures or hairline fractures.

Sometimes fractures result from an infection or cancer that weakens the bone. Weakened bones in older people, called osteoporosis, are also a frequent cause of fractures.

Learn more: What causes osteoporosis? »

Fractures can range from minor to severe depending on the force of the impact and whether there is other damage to the body. Some other types of damage that may occur include:

breaks in the skin
nerve damage
muscle damage
organ damage

What are the signs that you have a fracture?
The main sign of a fracture is pain. Most fractures will hurt, especially if you try to move or put weight on the injured bone.

Other symptoms at the site of the injury include:

swelling
numbness
bleeding
bruising or change in color
bone poking through the skin
You should go to the emergency room if you suspect a fracture. Call an ambulance if you, or someone else, has multiple injuries or is unable to walk.

How is a fracture diagnosed?
Your doctor will examine you and check the area of the injury for mobility, and for possible damage to blood vessels or joints. Most fractures are diagnosed using an X-ray of the affected bone.

Sometimes other tests besides X-rays may be needed to determine the extent of the fracture and associated damage.

Magnetic resonance imaging (MRI) or a bone scan can show more details if the fracture is small. An MRI can also show the soft tissue area around the bone, and may indicate injuries to surrounding muscles or tendons.

A computed tomography scan (CT or CAT scan) can be used to provide a three-dimensional image in horizontal or vertical slices of the affected area. This will show more of the detail of the fracture. Your doctor may also inject a dye into your arteries and then do a scan. The dye can make it easier for your doctor to identify damage to blood vessels. Finally, if nerve damage is suspected, nerve conduction studies can be used to check for any damaged nerves.

Your doctor will also ask how the injury occurred, when the pain started, and whether the pain has been getting worse. This will help your doctor decide whether to check for additional complications, such as a disruption of blood flow.

How will your doctor treat your fracture?
The treatment for a fracture depends on the type of injury, the location of the injury, and its severity.

Bones heal themselves by producing new bone tissue to repair the fracture. New bone tissue forms at the edges of the break to “knit” the broken pieces together. The new bone is soft at first, and so it needs to be protected.

Usually a fracture is immobilized to protect the new, soft bone tissue. Your doctor can immobilize the bone using options that include:

cast
splint
sling
combination

These devices can help keep the bone aligned while it heals. They also make it more difficult for you to accidently use the injured bone.

For a small bone like a finger or toe, the fracture can be immobilized by wrapping it with a soft wrap or a splint.

The injured bone may have to be realigned into its natural position before it’s immobilized with a cast or splint. The realignment may be done without surgery, and is called closed reduction. This often requires a local anesthetic and painkillers.

Sometimes surgery will be required to reposition the injured bone. This is called open reduction. The surgeon may also need to insert the following into your bone to help surgically align the bone:

pins
rods
screws
wire cables
This may require anesthesia and pain medication.

Hip fractures almost always require surgery to promote faster and better healing. Some limb fractures may need traction, a gentle pulling of the muscles and tendons around the broken bone in order to realign the bone. The traction can be created with a system of weights and pulleys that are mounted on a metal frame over your bed.

How long will it take your fracture to heal?
On average, fractures heal in six to eight weeks. Children usually heal faster than adults.

The healing time depends on the location and severity of the break. Your age and general health will also affect your recovery time. Follow your doctor’s advice for caring for the fracture to improve the healing process.

The pain usually stops before the fracture has fully healed, but it’s important to keep protecting the injured area until it has healed completely. You may have a physical therapy program and exercises designed to build up muscle strength and joint flexibility in the injured area.

Most fractures heal without complications. A fracture doesn’t necessarily increase or reduce your chances for a break in the same area in the future.

What can you do to prevent fractures?
Keeping your bones healthy is important at every age. This means getting enough calcium from your diet and doing weight-bearing exercises to keep your bones strong. Weak bones break more easily.

After age 40, everyone begins to lose bone mass. Your genetic makeup determines your peak bone mass, but diet and exercise make a big difference in keeping your bones healthy as you age.

Read more: 5 Fun water exercise that seniors can do together »

The American Academy of Orthopedic Surgeons recommends that both men and women over the age of 40 have:

at least 1,000 milligrams of calcium every day
at least 1,000 international units (IU) of vitamin D every day
If you are a woman and have gone through menopause, you should increase your calcium to 1,200 milligrams a day. This is because hormonal changes decrease bone strength, which can lead to osteoporosis and increased risk for fractures.

At any age, daily weight-bearing exercises, such as walking, are necessary for bone health. Check with your doctor about an appropriate exercise program for you.

There are also some things you can do to prevent falls and reduce your risk for bone fractures:

Wear sensible shoes.
Minimize clutter around the house.
Make sure that wires, cords, and other hazards are out of the way to prevent tripping.
Have adequate lighting and place nightlights in the bathroom or other rooms you may have to access in the middle of the night.
Secure rugs with no-slip pads.
Get physical therapy to help improve your balance. Take a balance training course, chair yoga, or tai chi.
Use a cane or walker if needed.

Achondroplasia
Causes
Genetic factors
Symptoms
Height
Diagnosis
Treatments
Outlook

What is achondroplasia?

Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. It’s the most common type of disproportionate dwarfism.

The disorder occurs in approximately 1 in 25,000 live births, according to Columbia University Medical Center (CUMC). It’s equally common in males and females.

What causes achondroplasia?
During early fetal development, much of your skeleton is made up of cartilage. Normally, most cartilage eventually converts to bone. However, if you have achondroplasia, a lot of the cartilage doesn’t convert to bone. This is caused by mutations in the FGFR3 gene.

The FGFR3 gene instructs your body to make a protein necessary for bone growth and maintenance. Mutations in the FGFR3 gene cause the protein to be overactive. This interferes with normal skeletal development.

Is achondroplasia inherited?
In more than 80 percent of cases, achondroplasia isn’t inherited, according to the National Human Genome Research Institute (NHGRI). These cases are caused by spontaneous mutations in the FGFR3 gene.

About 20 percent of cases are inherited. The mutation follows an autosomal dominant inheritance pattern. This means that only one parent needs to pass down a defective FGFR3 gene for a child to have achondroplasia.

If one parent has the condition, the child has a 50 percent chance of getting it.

If both parents have the condition, the child has:

a 25 percent chance of normal stature
a 50 percent chance of having one defective gene that causes achondroplasia
a 25 percent chance of inheriting two defective genes, which would result in a fatal form of achondroplasia called homozygous achondroplasia
Infants born with homozygous achondroplasia are usually stillborn or die within a few months of being born.

If there’s a history of achondroplasia in your family, you may want to consider genetic testing prior to becoming pregnant so that you fully understand your future child’s health risks.

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What are the symptoms of achondroplasia?
People with achondroplasia generally have normal intelligence levels. Their symptoms are physical, not mental.

At birth, a child with this condition will likely have:

a short stature that’s significantly below average for age and s*x
short arms and legs, especially the upper arms and thighs, in comparison to body height
short fingers in which the ring and middle fingers may also point away from each other
a disproportionately large head compared to the body
an abnormally large, prominent forehead
an underdeveloped area of the face between the forehead and upper jaw
Health problems an infant may have include:

decreased muscle tone, which can cause delays in walking and other motor skills
apnea, which involves brief periods of slowed breathing or breathing that stops
hydrocephalus, or “water on the brain”
spinal stenosis, which is a narrowing of the spinal canal that can compress the spinal cord
Children and adults with achondroplasia may:

have difficulty bending their elbows
be obese
experience recurrent ear infections due to narrow passages in the ears
develop bowed legs
develop an abnormal curvature of the spine called kyphosis or lordosis
develop new or more severe spinal stenosis
How tall will my child grow?
The average height for adults with achondroplasia is 4 feet, 4 inches for males and 4 feet, 1 inch for females, according to The Children’s Hospital of Philadelphia (CHOP). It’s rare for an adult with achondroplasia to reach a height of 5 feet.

How is achondroplasia diagnosed?
Your doctor may diagnose your child with achondroplasia while you’re pregnant or after your infant is born.

Diagnosis during pregnancy
Some characteristics of achondroplasia are detectable during an ultrasound. These include hydrocephalus, or an abnormally large head. If your doctor suspects achondroplasia, genetic tests may be ordered. These tests look for the defective FGFR3 gene in a sample of amniotic fluid, which is the fluid that surrounds the fetus in the womb.

Diagnosis after your child is born
Your doctor can diagnose your child by looking at his or her features. The doctor may also order X-rays to measure the length of your infant’s bones. This can help confirm a diagnosis. Blood tests may also be ordered to look for the defective FGFR3 gene.

How is achondroplasia treated?
There’s no cure or specific treatment for achondroplasia. If any complications arise, then your doctor will address those issues. For instance, antibiotics are given for ear infections and surgery may be performed in severe cases of spinal stenosis.

Some doctors use growth hormones to increase the growth rate of a child’s bones. However, their long-term effects on height haven’t been determined and are thought to be modest at best.

Long-term outlook
According to the NHGRI, most people with achondroplasia have a normal life span. However, there’s a slightly increased risk of death during the first year of life. There may also be an increased risk of heart disease later in life.

If you have achondroplasia, you may need to make some physical adaptations, such as avoiding impact sports that could damage the spine. However, you can still live a full life.