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Identifying and classifying congenital skeletal diseases with our genetic testing


Three millimeters. Smaller than a pea is the stirrup inside the ear. The femur, in contrast, measures about half a meter in an adult. Bones support our body, make us strong, mobile and protect our organs. The human skeleton comprises over 200 skeletal components. Anyone who has ever broken an arm or a leg knows how important their function is to us.

Bones that break easily can be caused by deficiency symptoms, old age or a genetic disease. 
In brittle bone disease (Osteogenesis Imperfecta), bones break as quickly as glass. The reason for this is the formation of collagen disturbed by a genetic alteration. In addition to extremely fragile bones, weak connective tissue, hearing loss, blue sclera and, in the heavy form, a small body size are typical.
The disease progresses differently depending on the type of mutation. In the early form, the child's bones already break in the mother's stomach. In the later form, the first bone fractures occur from infancy or later. 
In addition to brittle bone disease, there are other hereditary bone diseases: They are all extremely diverse and very different in their extent and the underlying effects. In addition, many different genes can be involved in this disease group. In addition to joints and bones, other organs can also be involved, such as the eyes, heart, lungs, kidneys, gastrointestinal tract or blood vessels.
For diagnosis, prognosis and treatment strategy it is crucial to identify the exact cause. With knowledge of the underlying genetic change and the hereditary pattern, risk carriers within a family can be identified at an early stage. Patients and their relatives receive valuable information on the risk of recurrence if they wish to have children.


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