Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) or “brittle bone disease” is a diverse group of inherited connective tissue disorders. Manifestations of the disorder are variable and include: osteoporosis, dentinogenesis imperfecta (abnormal enamel formation on the teeth), blue sclerae (sclerae are the white part of the eye), hearing loss, short stature, easy bruising, excessive sweating, joint laxity, and cardiopulmonary abnormalities. Osteoporosis is present in all patients and is responsible for the hallmark feature of the disease, a tendency for fractures to occur with minimal inciting trauma.

There is no distribution by gender, race, or ethnic origin. The disease probably affects 1 in 10,000 people.

More Information:
OI Foundation: http://www.oif.org
Medline Information: http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html
National Institutes of Health: http://www.osteo.org/oi.html
OI at Kennedy Krieger Institute: http://www.osteogenesisimperfecta.org