Osteogenesis Imperfecta Type XI (FKBP10)
Pathogenic variants in the gene FKBP10 causes the autosomal recessive disorder osteogenesis imperfecta type XI. The onset of this condition is typically in infancy with fractures after minimal trauma and osteopenia. In some severe cases, intrauterine fractures may be present. Individuals may have reduced ambulation or classic features such as weak and discolored teeth, hearing loss, and blue sclerae. In the most severe cases, the disorder is fatal shortly after birth. Some patients may be diagnosed with Bruck syndrome, a related disorder in which onset occurs in infancy and early childhood with congenital joint contractures and fragile bones that easily fracture. Individuals may have short stature, progressive scoliosis, macrocephaly, and limb deformities that may impact ambulation. Intelligence is typically normal. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.