What Is Osteogenesis Imperfecta?
Osteogenesis Imperfecta is a genetic disorder characterized by bones that break easily, often from little or no apparent cause.
Osteogenesis Imperfecta is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four forms of this disorder, ranging in severity.
What is OI caused from?
OI is caused by a genetic defect that affects the body's production of collagen. Collagen is the major protein of the body's connective tissue. A person who has OI has either not enough collagen or a poor quality of collagen, this leads to weak bones that fracture easily.
What are the four types of OI and their characteristics?
There are four types of Osteogenesis Imperfecta, they are typed for the severity and charactaristics.
Type one OI is the most common and least severe form of OI. A person with type one would have one or more of the following characteristics:
Bones that fracture easily, normal or near normal stature. Loose joints and low muscle tone. Sclera (whites of the eyes) usually have a blue, purple or gray tint. Triangular face, thay have a tendency toward spinal curvature. Bone deformity absent or minimal. Brittle teeth and hearing loss are a possibility.
Type two is the most severe form of OI. Most cases have reported death at birth or shortly after. Numerous fractures and severe bone deformity is normal. Small stature with underdeveloped lungs. Collagen is improperly formed.
Type three is also a severe form of OI, but people with type three can and do live "normal" lives. Type three OI also has bones that fracture easily. Fractures are often present at birth, they tend to be mostly of short stature. Sclera has a purple, blue or gray tint. Loose joints and poor muscle development in arms and legs are common. Barrel shaped rib cage, triangular face, spinal curvature, respiratory problems are also possible. Bone deformity is often severe. The possibility of brittle teeth and hearing loss. The collagen in Type III is improperly formed.
Type four is between type one and type three in severity. People with type four bones fracture easily, most before puberty. They have shorter than average stature and their sclera is white or near white (normal). The bone deformity is mild to moderate, but they have the tendency toward spinal curvature. OI type four has barrel shaped rib cage and triangular face. Brittle teeth and hearing loss are also possible. The collagen in type four is improperly formed.
Treatment of Osteogenesis Imperfecta:
There is a directed toward preventin or controlling the symptoms, maximizing independent mobility, and developing optimal bone mass and muscle strength. Care of fractures, extensive surgical and dental procedures, and physical therapy are aften recommended for people with OI.
The prognosis for an individual with OI varies greatly depending on the number of fractures and severity of symptoms. Despite numerous fractures, restricted activity, and short stature, most adults and children with OI lead productive and successful lives.