Osteogenesis imperfecta, or brittle bone disease, is a genetic disorder that makes bones become extremely soft and highly susceptible to damage in the form of fractures. There are eight known types of this condition, each brought on by a unique defect in the gene that monitors growth and development. Nevertheless, certain treatment options can help one deal with the condition. So, here are the common symptoms of osteogenesis imperfecta one should recognize:
Brittle bones
The most common symptom of osteogenesis imperfecta (or OI) is bone injuries, as the bones break easily at the slightest impact. Many types of OI affect bone density, so another sign could be bone deformities that manifest as bowing of the legs among children.
Deformed chest and spine
The spinal cord and chest plate contain a large number of bones. Osteogenesis imperfecta affects the natural shape of these bones, leading to the development of a barrel-shaped chest. As the condition progresses, it also affects the natural curvature of the spine, making the body bend forward and affecting the normal posture. Here, the type and severity of OI determine the intensity of such symptoms. Some may also develop irregularities in the face, affecting its shape.
Muscle weakness
Skeletal muscles develop around the bones and are responsible for movement. They also support the skeletal structure, enabling one to perform all kinds of activities requiring stability and mobility. However, osteogenesis imperfecta contributes to poor muscle development along with bone deformities.
Oral problems
Oral problems like discoloration of the teeth, frequent and multiple cavities, and changes in the strength, shape, and structure of teeth are some of the common signs of osteogenesis imperfecta. When dealing with type I OI, the symptoms are limited to changes in the strength and color of the teeth. However, type II may cause misalignment along with discoloration. The severity of the symptoms can vary depending on the type and overall health of those affected.
Easy bruising
Symptoms of osteogenesis imperfecta may also develop on the surface of the skin. However, skin that bruises easily with the slightest impact and results in wounds that do not heal for a long period could be a sign of underlying bone problems. Additionally, frequent nosebleeds and heavy bleeding following an injury may be observed when dealing with OI.
Hearing loss
Another common symptom that develops with all known types of osteogenesis imperfecta is hearing loss. This is because the condition may cause a deformity of the ossicles (bones in the middle ear). Over time, ossicle fracture and other issues in these bones can contribute to a loss of hearing in early adulthood.
It is important to consult a health professional upon noticing any signs of osteogenesis imperfecta, as early diagnosis can help one manage the condition.
