Osteogenesis imperfecta (OI) is a group of connective tissue disorders. It is characterized by fragile bone and low bone mass. OI is clinically and genetically heterogeneous. OI type XI is an autosomal recessive condition which is caused by mutations in the FKBP10 gene. The severity of OI-XI can range from very mild forms without fractures to intrauterine fractures and perinatal lethality. The onset of fractures in affecteds can happen between 4 to 18 months of age. Other symptoms include, but are not limited to, short stature, triangular face, joint laxity, scoliosis, bowed extremities, hearing loss and blue sclera.
Mutations in the FKBP10 gene have been linked to the development of OI11. The FKBP10 protein is thought to function as a collagen chaperone and to assist in collagen folding. Mutations in this gene cause varied phenotypes.