English

Some people live with this disease without knowing it. 

In Denmark, there are between 650 and 700 individuals with Osteogenesis Imperfecta. 

OI is a rare disease and DFOI is a member of the organisation Sjældne Diagnoser (Rare Diseases Denmark).

Most people with OI lead relatively normal lives, including education, work, leisure, and family life, despite many having reduced functional capacity and some requiring assistance.

About the diagnosis

Osteogenesis Imperfecta (also called OI or congenital fragility), is an inherited connective tissue disease. In most cases, OI is caused by a fault in the threads in the connective tissue called collagen type 1.

Collagen is of great importance for the structure of the bones. The most important symptoms of OI are therefore related to the skeleton, but other organ systems are also involved.

In the most severe forms of Ol, the children are born with fractures, and in many cases with bent bones. With a milder degree of OI, the fractures usually occur later.

Causes and treatment

The condition is caused by defects or deficiencies in the connective tissue (collagen type 1).

Both inheritance and severity can vary. OI causes several different symptoms, of which fragility is just one of them.

The collagen defect can also affect muscles, tendons, etc.

Symptoms other than brittle bones can include hyperextensive joints, blue conjunctivae in the eyes, tooth bone abnormalities, hearing loss and short stature.

Many people with OI have a crooked back and/or incorrect postures. Not everyone with the diagnosis will have all the symptoms, and the situation can vary greatly from person to person.

The disease is not caused by calcium deficiency, and must not be confused with acquired bone fragility (Osteoporosis).

Congenital osteoporosis cannot be cured, but many can be helped to some extent with orthopedic, surgical or medical treatment. Physiotherapy and physical activity are also of great importance for strengthening the muscles and bones.

It is important to note that a collagen analysis cannot confirm or deny the diagnosis of OI in all cases. Both the person themselves, next of kin and healthcare personnel must therefore relate to clinical diagnostic criteria, symptoms and findings. If you are in doubt as to whether you or your child may have OI, you can contact the Center for Rare Diseases in Copenhagen (Rigshospitalet) or Aarhus.