Which genetic disorder is associated with multiple fractures and blue sclerae?

Osteogenesis imperfecta is the correct answer because it is a genetic disorder characterized by a defect in collagen synthesis, leading to fragile bones that are prone to fractures even with minimal trauma. Individuals with this condition often experience multiple fractures throughout their lives. The condition is also associated with distinctive features, one of which is blue sclerae. This bluish tint is due to the thinner scleral tissue, which allows the underlying choroidal veins to show through.

The condition is caused by mutations in genes responsible for producing type I collagen, which is crucial for the strength and integrity of bones, skin, and connective tissues. The severity of osteogenesis imperfecta can vary, with some individuals experiencing many fractures and others having few.

In contrast, Marfan syndrome primarily affects connective tissue and is characterized by tall stature, arachnodactyly, and cardiovascular issues, but it does not typically cause blue sclerae. Ehlers-Danlos syndrome involves hyper-elastic skin and joint hypermobility, while achondroplasia is a form of dwarfism caused by a mutation in the FGFR3 gene and does not feature blue sclerae or multiple fractures.