What? Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and causing extremely fragile bones that break or fracture easily. Four main types of OI have been identified. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe. 

 

Who? Each case of OI is different. Approximately 20,000 to 50,000 individuals in the United States have OI. 

 

When? Osteogenesis imperfecta is inherited during conception. Symptoms can show up anytime between birth and before puberty. 

 

Where? OI affects the connective tissue, mainly the bones of the body. 

 

Why? The various forms of osteogenesis imperfecta are inherited as autosomal dominant traits.  

 

Symptoms:frequent bone fractures, bone malformation, hearing impairment, bluish discoloration of the whites of the eyes, triangular facial appearance and an abnormally large head, abnormal sideways or front-to-back curvature of the spine, growth deficiencies after birth, loose joints, low muscle tone, bruises easily.

 

Treatments:Treatment is aimed at preventing symptoms, maintaining individual mobility, and strengthening bone and muscle. Exercise and physical therapy programs, hydrotherapy. A procedure in which metal rods are surgically placed in the long bones to prevent fractures (rodding) is often used to treat individuals with OI. Plastic braces and inflatable suits. Surgery and some dental procedures to correct deformities. Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.