Osteogenesis Imperfecta By Zachary G Brittle bone disease

What it is Osteogenesis Imperfecta is a genetic disorder in which the bones can be easily Broken or harmed. There are at least eight types of this disease. I is the least dangerous, and II thru VIII are more severe. The worst is II. It causes the body to have major deformities and the person is extremely fragile

How It Happens It happens because a person has to little collagen within there bones. Collagen is the framework which bones form around. Without this collagen the bones framework is fragile.

Symptoms The classic symptoms include: Blue tint to the whites of their eyes (blue sclera) Multiple bone fractures Early hearing lose Symptoms of more severe forms of OI may include: Bowed legs and arms Kyphosis (S-curve spine) Kyphosis Scoliosis Sclera have a blue, purple, or gray tint Soft bones that not only break easily but also bend Loose joints Poor muscle development Barrel-shaped ribcage Triangular face Poor tooth development, often causing teeth to be brittle and discolored

How many people have it and how they got it Estimate suggests a minimum of 20,000 and possibly as many as 50,000. Inheritance Factors Most cases of OI (85-90%) are caused by a dominant genetic defect. This means that only one copy of the mutation carrying gene is necessary for the child to have OI. Children who have the dominant form of OI have either inherited it from a parent or, when the parent does not have OI, as a spontaneous mutation.

Treatment There isn’t a treatment yet found to save people with this disease. People who have this disorder are advised to exercise to prevent bone fractures.

Differences Between Most Severe and Least Severe Type I Most common and mildest type of OI. Bones fracture easily. Most fractures occur before puberty. Normal or near-normal stature. Loose joints and muscle weakness. Sclera (whites of the eyes) usually have a blue, purple, or gray tint. Triangular face. Tendency toward spinal curvature. Bone deformity absent or minimal. Brittle teeth possible. Hearing loss possible, often beginning in early 20s or 30s. Collagen structure is normal, but the amount is less than normal. Type II Most severe form. Frequently lethal at or shortly after birth, often due to respiratory problems. Numerous fractures and severe bone deformity. Small stature with underdeveloped lungs. Tinted sclera. Collagen improperly formed.

OI is a genetic disease. The inheritance pattern is usually autosomal dominant. This means an affected person will have OI even though only one faulty gene has been passed along. This faulty gene can come from either parent, and it can affect either sex. Each child of an affected parent will have a 50 percent chance of developing OI. Autosomal Or Sex linked

Dominate or Recessive This is usually a Dominant Trait