Osteogenesis imperfecta (brittle bone disease)

Osteogenesis imperfecta is a hereditary metabolic disorder characterised by extremely fragile bones and teeth and usually becomes apparent in early puppyhood.

The underlying cause is a severe defect in collagen formation, a key component of the bone matrix. Depending on the breed, different genetic variants are responsible, leading to incorrect formation of the structural protein collagen type I. This collagen is essential for the stability and elasticity of bones and teeth. If its function is impaired, the bones lose significant strength and become highly prone to fractures.

The symptoms of osteogenesis imperfecta typically appear within the first weeks to months of life, and therefore usually already in puppyhood. Affected puppies have extremely fragile bones that may fracture during normal movement, play, or even minor physical stress. The teeth are also brittle and often show a thin, partially pink-shimmering enamel, indicating structural alterations in tooth development. In addition, many dogs develop a painful restriction of mobility. Moeover, unusually elastic joints may be observed, further increasing instability of the musculoskeletal system.

Due to the early onset of the disease and the severity of the clinical signs, the quality of life of affected dogs is generally significantly reduced.