Osteogenesis imperfecta is a congenital anomaly due to a genetic defect affecting 1/30,000-1/70,000 individuals.

It results in defective collagen producing osteoporosis and therefore weak bones, short stature, kyphosis, multiple fractures and bowed bones(due to innumerable fractures).

 Patients may also have poor dentition, blue sclerae, hearing loss and Wormian bones.

It is variable in severity with 8 different types according the the NIH, Type 1 being the most common with a normal life span and Type 2 being the most severe with death usually in the first year of life.

Usually this is autosomal dominant, but new mutations are common and it may even occasionally be autosomal recessive.

Diagnosis is by skin biopsy or by DNA blood tests.

There is no cure.

Treatment is symptomatic primarily treatment of fractures.