Brittle Bone Disease

Brittle bone disease is a condition which causes the bones to be very fragile. This condition is also known as Osteogenesis imperfecta. This is a congenital disease which means that it is caused by a genetic condition in the womb of the baby itself. However, this disease presents itself in many different severities and therefore it is extremely difficult to understand the basic reasons for the changes in the disease in the first place.

It has been considered that brittle bone disease gets inherited from the parents in about 50 percent of the cases. Some cases are also due to new genetic mutations and children are born with this disease even if their parents do not have any genetic problems.

Symptoms of this disease

The classic symptoms of this disease will include having a blue tint to the whites of the eyes of the patient, brittle bones, or very susceptible to fractures and early hearing loss. A person suffering from brittle bone disease normally is below the average in stature; however, there is a very big difference in the way how this disease presents itself in different people.

Type I collagen is considered to be a very important ingredient required to build strong bones and ligaments in the human body, and therefore the lack of it will also increase the possibilities of people having loose joints and flat feet as well. It is also common to see these kinds of people having poor teeth development.

Depending on the family history a baby may be tested to see whether he is suffering from this genetic disease at a very early stage in the womb itself. However, if this is not a hereditary issue, then it will be suspected that is present in children that tend to have fractures easily, and this can be determined through a physical examination by checking the color of the white of the eyes and whether there is a blue tint on them or not.

How severe can this disease be?

The severity of the disease has been classified into four stages and the first stage is considered to be the most common of them all. The person may have some problems with their body structure; however, most are able to live a very normal life. The other three stages are considered to be much more severe, although not so common, can lead to many complications and early death as well.