Brittle Bone Disease: Causes, Symptoms, Prevention, and Treatment

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What is Brittle Bone Disease

Brittle bone disease, also popularly referred to as Osteogenesis Imperfecta brittle bone disease, is a genetic disorder that prevents or stops the body from building strong bones.

People with Osteogenesis Imperfecta have soft bones that can be broken easily. That is why this health condition is referred to as brittle bone disease. Even without an accident, fall, or injury, people with brittle bone disease can easily break their born with minor or no injury or accident.

Osteogenesis Imperfecta affect both man and woman, adult and babies regardless of race or age, currently there is no cure for the brittle bone disease, but a medical expert can try as much as they can to treat this deadly bone disease.

What Causes of Brittle Bone Disease

There are several causes of brittle bone disease. One of the most popular and major causes of brittle bone disease is inheritance. Osteogenesis Imperfecta can be passed through the family. If any of your family members is currently living with brittle bone disease, then you are at higher risk of brittle bone disease.

The brittle bone disease occurs when any infection overpowering the gene that supposes to produce a substance is known as collagen.

Collagen is one of the helpful proteins found in the body that helps to create and strengthens bones. So if you don’t have enough collagen, then your bone will be weaker, and it will become brittle bone which can be broken easily even without accident or injury. That is why most brittle bone diseases passed through family lineage it can be transferred easily from parents to their children, although some children are born without brittle bone disease even if their parents did not have a brittle bone disease, as they begin to grow, they develop Osteogenesis Imperfecta on their own, some babies get Osteogenesis Imperfecta while growing in their mother’s womb.

A child with a brittle bone disease can have broken bone during a diaper or dress change. People with this dangerous health problem may have at least two broken bones or more than a hundred broken bones during their lifetime.

In some cases, Osteogenesis Imperfecta symptoms won’t appear until the teen years or later.

Symptoms of Brittle Bone Disease

There are numerous symptoms of brittle bone disease that will be listed here. This article will, however, list the major symptoms of brittle bone disease.

These are the major symptoms of brittle bone disease (Osteogenesis Imperfecta)

  • Broken bones
  • Bleeding and easy bruising
  • Weak muscles and tissues
  • The blue color in the white part of the eyes
  • Bowing of the legs
  • Short height
  • Brittle, discolored teeth
  • Curved spine, called scoliosis
  • Feeling very tired
  • Skin that is easily hurt
  • Can’t stand warm temperatures
  • Breathing problems
  • Hearing loss that starts in early adulthood
  • Skin that is hurt always
  • Loose joints

Types of Brittle Bone Disease

Spelt: Benefits and Side EffectsBrittle bone disease (Osteogenesis Imperfecta) is classified into four types depends on the symptoms.

Brittle bone disease symptoms may be mild or severe. The effect of the disease begins to rise if it is not properly treated.

Type 1 Osteogenesis Imperfecta

Type 1 Osteogenesis Imperfecta is the early stage of brittle bone disease, as, at this moment, your body will still be producing quality collagen, but it won’t be enough because of the mildly fragile bones in your body. People with type 1 Osteogenesis Imperfecta, especially children, have bone fractures due to mild traumas.

These are the symptoms of the brittle bone disease at type 1 or mild level.

  • Little or no bone deformity
  • Few signs of the condition
  • Premature hearing loss
  • Average life expectancy
  • Number of broken bones from one to many
  • Height is not usually affected
  • Broken bones decrease after puberty

Type 2 Osteogensis Imperfecta

The second type of brittle bone disease symptoms is known as type 2 Osteogenesis Imperfecta or moderate symptoms.

Type 2 Osteogenesis Imperfecta is more severe than type 1 because the brittle bone disease can be life-threatening at this point.

During this moment is either your body did not produce enough or low-quality collagen, and it may cause bone deformities. Children living with type 2 Osteogenesis Imperfecta may have a narrowed chest, broken ribs, undeveloped lungs.

Babies with type 2 Osteogenesis Imperfecta can even die in their mother’s womb or immediately after birth.

These are the symptoms of type 2 Osteogenesis Imperfecta.
  • The increased and higher number and frequency of broken bones
  • Long bones slowly get worse
  • Babies may be born with several broken bones, an unstable neck, a soft skull, or more.
  • Short height
  • Abnormally shaped spine and rib cage
  • May have a dozen to several hundreds of broken bones
  • Inability to move
  • Severe breathing problems can cause early death.

Type 3 Osteogenesis Imperfecta

People with type 3 Osteogenesis Imperfecta produces enough collagen, but a low quality that is why anyone that is living with type 3 Osteogenesis Imperfecta will be;

  • Shorter than their mate
  • Regular bleeding
  • Several injuries
  • Brittle teeth
  • Increased number and frequency of broken bones and more.

Type 4 Osteogenesis Imperfecta

Osteogenesis Imperfecta type 4 is the last type of Osteogenesis Imperfecta; this is the most severe stage of Osteogenesis Imperfecta.

  • If a baby is living with type 4 Osteogenesis Imperfecta, then he or she can easily die in the womb or instantly after birth at this point.
  • Breathing problems that can cause death
  • Development of several bone diseases
  • Short height
  • Several records of bleeding

Diagnosis and Treatment of Brittle Bone Disease

The best and most effective method of diagnosing the brittle bone disease is to trace brittle bone disease from the family history. Then carry out several tests that will explain and let the doctor know the type of Osteogenesis Imperfecta the person is living with.

These are the list of the test that must be carried out to diagnosis brittle bone disease.

  • X-ray
  • Blood and urine test
  • Biochemical test
  • DNA test and another related test.

This test will examine the condition of collagen and how it can be improved by producing enough and quality collagen that the body needs to produce strong bone.

Treatment of Osteogenesis Imperfecta

There are several methods of treating brittle bone disease depends on the symptoms and the types of brittle bone disease you are living with.


The surgery method is one of the most effective methods of treating brittle bone disease.

Surgery is needed to repair or replace all the broken bones. In some cases, surgeons need to replace the long bone with metal rods. The femur, tibia, and humerus bones can be replaced with metal rods so that they won’t break easily.

Surgery can also improve dental health, hearing problems that which are the major symptoms of brittle bone disease.


There are several medicines that are manufactured to treat brittle bone disease; these medicines improve bone density, improve the hearing problem, height, bleeding, and other symptoms of brittle bone disease.


Physical and occupational therapy can also be used for brittle bone treatment because it increases mobility and muscle strength.

How can Brittle Bone Disease Be Prevented?

There are several ways to prevent brittle bone disease, one of the most effective methods of preventing brittle bone disease is to go for a check-up or medical test that will show either you are living with a brittle bone disease or not.

If your test result shows that you are currently living with the brittle bone disease may be at the early stage, which is type 1, then you need to be careful.

You need to avoid any activities that will put your bone at risk.

Don’t engage in strong exercise.

Always eat healthy food that will increase the strength of your bone and another part of your body.

In Conclusion

boyBrittle bone disease is actually one of the most popular diseases that affect children immediately after birth. That is why it is really important to carry out several tests for your baby when they are still in their mother’s womb.

If there is any test that confirms Osteogenesis Imperfecta in the womb, then the treatment will be fast, and it will reduce the effect of brittle bone disease before they are born.

Brittle bone disease is a preventable disease if a regular medical test is carried out. To reduce the effect of brittle bone disease, the rights medicine, and other medical equipment must be used at the right time so that the symptoms won’t increase from type 1 to higher types of brittle bone disease.