What Conditions are Associated with Type I Collagen Defects?
Several pediatric conditions are associated with defects or mutations in type I collagen. Some of the most notable conditions include:
Osteogenesis Imperfecta (OI): A genetic disorder characterized by brittle bones that are prone to fractures. The severity of OI can vary, with some children experiencing frequent fractures and others having mild symptoms. Ehlers-Danlos Syndrome (EDS): A group of connective tissue disorders that can affect the skin, joints, and blood vessel walls. EDS can lead to hypermobility, skin that bruises easily, and other systemic complications. Caffey Disease: Also known as infantile cortical hyperostosis, this rare condition involves excessive bone growth and inflammation, often linked to mutations in the type I collagen gene.
