Strange diseases Part 1--Osteogenesis Imperfecta

Called "Brittle Bone Disease", Osteogenesis is the result of a faulty gene that causes a lack of type I collagen (basically it makes ligaments, tendons, and bone along with some other important stuff). The disease causes bones that break easily. It varies from a mild form to a severe state in which the child usually always dies in the womb or within the first year.
In the above X-ray, you can see the legs are ribbon-like due to lack of structure. The bones can be so fragile that a simple bump against something can cause a fracture.

While there is no cure, the mild form is most common, which can be managed usually with a healthy lifestyle. More severe forms will sometimes result in metal rods placed into the bones to strengthen and support them.

A more severe form is seen here. As you can imagine, quality of life is usually quite low. Muscle atrophy occurs and simple tasks can create micro-trauma and hairline fractures in the bone.

Osteogenesis is an inherited disorder 90% of the time, meaning a parent usually carries the gene. It is also autosomal dominant, which means one of your parents HAS to have it and they have symptoms for it.

Another unique trait to this disease is the presence of blue sclera (white of the eyes). This is because the sclera is not as thick due to lack of collagen, allowing the blue of the underlying choroidal veins showing through.

When we learned about this disease in class, I remembered this guy from Spongebob. This is a good example of Osteogenesis Imperfecta.

That's all for today. Sharing some knowledge that I've learned in my classes that I thought was interesting. I put a Part 1 because I might continue to post some interesting diseases that you might not have known exist.