What symptom is associated with Osteogenesis Imperfecta besides brittle bones?

Osteogenesis imperfecta (OI), often known as "brittle bone disease," is primarily characterized by fragile bones that break easily; however, it is also associated with several other symptoms. One notable symptom is blue sclera, which occurs due to the thinness of the collagen in the sclera (the white part of the eye). This thinner collagen allows for the underlying choroidal (vascular) tissue to show through, giving the eyes a blue appearance.

The presence of blue sclera is a classic clinical finding in individuals with certain types of Osteogenesis imperfecta, specifically those associated with a genetic disruption in collagen production, which affects more than just bone integrity. Recognizing this symptom can be crucial for early diagnosis and management of the condition.

The other symptoms listed, such as short stature and joint hypermobility, can occur in some subtypes of Osteogenesis imperfecta but are not as universally recognized as blue sclera. Excessive height is generally not associated with OI; in fact, individuals may tend to have a shorter stature due to frequent fractures and stunted growth resulting from the disease.