Signs Of Osteogensis Imperfecta

Osteogenesis imperfecta (OI), sometimes called brittle bone disease, is a disease that causes bones to weaken and break easily. In some cases of OI, the disease can become so severe that bones break without any discernable reason. Osteogenesis imperfecta also causes a host of other potential problems including hearing loss, brittle teeth, and weak muscles. It is estimated somewhere between twenty and fifty thousand individuals are currently afflicted by OI.

The leading cause of this condition is one of several possible genes is not functioning correctly, which leads to the inability to produce enough collagen or the production of collagen that does not work. Collagen is the biggest key factor in bone strength. Children with osteogenesis imperfecta generally inherit their OI gene from one or both parents, although there are some cases where this is not the case.

Easily Broken Bones

Easily broken bones are the main hallmark of the disease, which is why it is called brittle bone disease. When a child's genes are contributing incorrectly to the production of collagen, it causes a lack of collagen throughout the body. Unfortunately, without collagen, bones become brittle and easily broken.

Osteogenesis imperfecta presents with eight main types. Type 2, 3, 7, and 8 all tend to present with severe symptoms. In these cases, the patient's bones might break so easily they snap or fracture with no external cause whatsoever. Patients with type 4, 5, or 6 will experience symptoms more moderately. Their bones may break due to external forces that wouldn't usually cause bone damage. Type 1 tends to cause mild symptoms, and these patients simply need to be very careful about their body.

Bone Deformities

Bone deformity is common enough that the name of the disease, osteogenesis imperfecta, literally means 'an imperfectly formed bone.' The type and severity of bone deformity vary depending on the individual and the type of OI they have. Type I is the mildest and most common type of OI. Most Type I patients don't present with bone deformity because their collagen is structured correctly. Type II is the most severe and life-threatening form, where collagen cannot form at all. A fetus' bones might break before they are even born. Many infants have bone deformity so severe they don't survive long after birth.

Type III has collagen that doesn't form properly, which often causes severe bone deformities. Infants are usually born with fractures. Type III osteogenesis imperfecta typically presents with spinal deformities and growth issues. Type IV is a moderately severe form and involves improperly formed collagen. Bone deformities are not as common as in Type III, instead ranging from moderate to mild.

Bowed Legs or Arms

Bowed legs or arms are more common in moderate to severe cases of osteogenesis imperfecta than in Type I. However, Type I children might experience more frequent dislocations of their shoulders and elbows than the average child. Type II infants are usually born with exceedingly short limbs and legs positioned like a frog's. The femurs will be very short and telescoped. Infants will show evidence of having their longer bones malformed while in the womb.

Type III infants will have mildly bowed and shortened limbs when they're born, and it's also common for long-bone fractures to occur at birth. In Type IV patients, bowing of the legs and arms might occur at birth, but it's not necessarily common. Some signs of bone malformation may occur and result in diagnosis at birth. However, some children will not have the condition diagnosed until later, as many don't experience fractures until they begin walking.

Scoliosis Or Kyphosis

Scoliosis or kyphosis will usually present in an osteogenesis imperfecta patient. Scoliosis is an abnormal curvature of the spine, and kyphosis is a spinal deformity that often appears in individuals who have OI. Spinal compression fractures might lead to individual vertebrae having deformities as well. Scoliosis makes the spine appear in a 'C' or 'S' shape. Two parts of osteogenesis imperfecta contribute to the high rate of scoliosis among OI patients. The ligaments associated with these patients have a high rate of laxness. Additionally, the complex vertebrae may develop individual deformities thanks to the lack of adequate collagen levels.

Compression fractures in the vertebrae can be very painful. They occur in conjunction with any activity that causes spinal jarring. The spinal bones become deformed by the fractures over time, which can make scoliosis worse. Scoliosis can increase a patient's pain levels while significantly reducing their mobility, which can be very serious, as it limits the ability to develop adequate bone mass. Additionally, severe scoliosis can interfere with the ability to breathe normally.

Loose Joints

Collagen isn't just important for a person's skeletal system. The protein is part of many other parts of the body. Improper collagen production, while leading to its most severe symptoms in the skeleton, can also cause issues with loose joints, weak muscles, brittle teeth, and hearing loss. Collagen is a crucial factor in the creation of the cartilage layer between joints. The cartilage is what cushions the bones and keeps them from rubbing together.

In osteogenesis imperfecta patients, such cartilage will often be improperly formed or fail to form at all. This prevents the body's joints from developing properly, which can lead to looseness. A loose joint can move further than the usual range of motion. Though mobile joints are common in many individuals, they can cause an increase in joint pain for OI patients, especially when the protective cartilage fails to form at all. Individuals with osteogenesis imperfecta may experience more frequent dislocations and bone displacements than the average population, even when a bone fracture isn't involved.