Diseases

Brittle Bone Disease

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Osteogenesis imperfecta, not one but a group of genetic diseases, all of which affect collagen, a key component of connective tissue in tissues like bone, tendon and skin. All types of osteogenesis imperfect result in fragile bones.

SYMPTOMS

Pain in the bones, also common: bone fracture, bluish tinge of the white of the eye, bone tissue formation, bow legs, bruising, callus, enlarged head, hearing loss, physical deformity, scoliosis, short stature, or stiffness

CAUSES

Brittle bone disease is caused by a defect, or flaw, in the gene that produces type 1 collagen, a protein used to create bone. The defective gene is usually inherited. In some cases, however, a genetic mutation, or change, can cause it.