Brittle Bone Disease Information

By Author: Strongobones
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Brittle bone disease is usually caused by a genetic factor that affects the formation and production of type 1 collagen, the protein that is used to create bone. This defective gene is inherited but the defect may also occur as a result of a spontaneous mutation. There are some forms of the disease that may be fatal to babies before or even immediately after birth.

Types

There are 4 genes that are responsible for the production of collagen and one or all of them may be affected. The combination causes 8 different types of brittle bone disease that are usually named from 1 01 up to 8 01. The most common types are usually the first 4 while the last 4 are extremely rare with most of them being type 4 01 subtypes.

Type 1 01 is the most common but mildest form of the disease in babies. The body of the child produces the normal quality collagen but it doesn’t produce enough of it resulting in bones that are only mildly fragile. Babies with this form can suffer from bone fractures as a result of mild traumas. They may also experience dental cavities and cracks as teeth ...
... are also affected. Type 2 01 is usually the most severe type of the disease and can be fatal. This form of the diseases causes the body of the child to produce collagen that is either not enough or of poor quality causing bone deformities. Babies born with this form of the brittle bone disease suffer from misshapen or broken ribs, narrowed chests as well as lungs that are undeveloped. Infants with this disease will either die in the womb or even shortly after birth.

Type 3 01 is also a severe form of the disease that may cause the bones to break easily. This forms of the disease causes the baby’s body to produce enough collagen but of poor quality. The bones of the baby may even start breaking before birth. The disease causes bone deformities and the condition may worsen as the child grows. Type 4 01 has symptoms ranging from mild to severe. This form of the disease causes the body to produce enough collagen but of poor quality. Babies born with type 4 01 usually have bowed legs but the bowing will lessen with age.

Treatment

Brittle bone disease has no cure but there are therapy and equipment options that can help to correct some symptoms. You can donate to help prevent and correct fractures. Through your donations patients suffering from the disease can access wheelchairs, braces, physical therapy and extensive dental and surgical procedures. You can also donate towards the rodding cost or even other surgical procedures that can be used to prevent any subsequent fractures.