What is OI

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term “osteogenesis imperfecta” means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person’s lifetime.

There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.

Introduction to Bone Fragility syndromes
A new Dyadic Naming System for OI and Bone Fragility syndromes
Bone fragility is shared with many other rare disorders
Digenic Inheritance of OI and Bone Fragility in some families
Recognising Sex-Linked inheritance and its consequence for families
Multidisciplinary Care Clinics have revolutionized care of people with OI.

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Osteogenesis Imperfecta (OI) means “bones formed imperfectly”. It is a genetic condition that someone is born with and will always carry throughout their life. It primarily affects the bones, causing them to be fragile.

OI is usually diagnosed as a result of family history and/or clinical observation. In most cases OI will be detected early on in a child’s life as a result of the child having a number of fractures. In addition to this some key clinical observations may be present such as:

Osteogenesis imperfecta (OI) is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen (the major protein in bone and skin). Collagen is the major protein of the body’s connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normal, leading to weak bones that fracture easily.

OI is treated primarily by managing fractures and promoting as much mobility and independence as possible. Prolonged immobility can further weaken bones and lead to muscle loss, weakness, and more fractures. Many orthopedists prefer to treat fractures with short-term immobilization in lightweight casts, splints, or braces to allow some movement as soon as possible after the fracture.

What is a fracture?

A fracture is a break in the bone or cartilage. It usually is a result of trauma.

It can, however, be a result of disease of the bone that leads to weakening, such as osteoporosis, or abnormal formation of the bone from congenital diseases at birth, such as osteogenesis imperfecta.

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What is OI

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Types of Fractures

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