Which condition is characterized by the presence of blue sclera?

The condition characterized by the presence of blue sclera is osteogenesis imperfecta. This genetic disorder, often referred to as "brittle bone disease," affects collagen production, which is crucial for maintaining the strength and integrity of bones and connective tissues. The blue tint of the sclera is due to the underlying choroidal vessels being more visible because of the reduced thickness and quality of the scleral collagen.

Osteogenesis imperfecta is often associated with other clinical features such as frequent fractures, bone deformities, and dental issues. Blue sclera is a distinctive and common clinical finding in this condition that helps in its identification.

In contrast, Marfan syndrome primarily affects the connective tissues, leading to features like tall stature, long limbs, and cardiovascular complications, but it does not typically present with blue sclera. Ehlers-Danlos syndrome also involves connective tissue disorders resulting in hypermobility and skin fragility, and while there can be some variance in scleral appearance, blue sclera is not characteristic. Achondroplasia is a form of skeletal dysplasia resulting in short stature and has distinct features such as a disproportionate body shape but does not cause blue sclera either. Therefore, osteogenesis imperfecta stands out due to the iconic