Bruck syndrome

Bruck syndrome is an extremely rare autosomal recessive connective tissue disorder characterized by the combination of osteogenesis imperfecta (brittle bone disease) and arthrogryposis (congenital joint contractures). The condition is sometimes referred to as osteogenesis imperfecta with congenital joint contractures. Two genetic subtypes have been identified: Bruck syndrome type 1 (caused by mutations in the FKBP10 gene) and Bruck syndrome type 2 (caused by mutations in the PLOD2 gene). Both genes are involved in collagen cross-linking and post-translational modification, which are essential for normal bone and connective tissue formation. The disease primarily affects the skeletal system. Key clinical features include bone fragility with recurrent fractures (often present at birth or occurring with minimal trauma), congenital joint contractures particularly affecting the large joints, progressive skeletal deformities, osteoporosis, short stature, and pterygia (webbing of skin across joints). Wormian bones (extra bone pieces within the skull sutures) are frequently observed on radiographic imaging. Scoliosis and limb deformities may develop progressively. Unlike classic osteogenesis imperfecta, blue sclerae and dentinogenesis imperfecta are generally absent or uncommon in Bruck syndrome, which helps distinguish the two conditions. There is no cure for Bruck syndrome. Treatment is supportive and multidisciplinary, focusing on fracture management, orthopedic interventions for contractures and skeletal deformities, and physical therapy to optimize mobility and function. Bisphosphonate therapy (such as pamidronate) has been used in some patients to improve bone mineral density and reduce fracture frequency, with variable reported outcomes. Surgical correction of contractures and scoliosis may be necessary. Genetic counseling is recommended for affected families.

Common questions about Bruck syndrome