Brittle bone disease syndrome also known as osteogenesis imperfecta. Osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. People with OI are born without the proper protein (collagen), or the ability to make it, usually because of a deficiency of Type-I collagen. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones.

Osteogenesis imperfecta usually begins either in utero or in infancy, is classified into four types. Low levels of collagen characterize Type I brittle bone disease. This type is the most frequently occurring and the least severe. Bones are likely to break easily before the onset of puberty. Type II brittle bone disease is extremely severe, with most affected children dying before age one. The bones are usually severely deformed and lung development is not normal. Type III, conversely, allows the body to produce enough collagen. This type of brittle bone disease is progressive, with few symptoms shown in babies.

People with Type III may have a normal lifespan, but their life will be significantly impacted by progression of the disease. Type III - 50% of individuals have bone fractures before birth; the rest have bone fractures shortly after birth; shortening of limbs and progressive deformities; facial abnormality; hearing not affected. Type IV brittle bone disease is also characterized by poor quality collagen but tends to be a milder form. Bone breakage is common before adolescence, like in Type I. In fact the disease follows an almost identical course to Type I. Treatments are aimed at increasing overall bone strength to prevent fracture and maintain mobility.

There have been many clinical trials done with the drug, Fosamax, a drug used to handle women experiencing brittleness of bones payable to osteoporosis. More success was seen in the tablet kind versus the IV kind, but success was yet seen. Bone infections are treated as and when they happen with the proper antibiotics and antiseptics. Physiotherapy used to strengthen muscles and better motility in a mild style, while minimizing the danger of crack. Spinal fusion can too be performed to rectify scoliosis, although the implicit ivory fragility makes this procedure more complicated in OI patients.