Bruck syndrome 2 (BRKS2)

Bruck syndrome 2

Bruck syndrome 2 (BRKS2; MIM 609220) is an autosomal recessively inherited disorder characterized by congenital joint contractures and multiple fractures in infancy and childhood. Additional findings include kyphoscoliosis, pectus, short stature, angular deformities of long bones, persistent osteopenia, pterygia, and clubfoot. The fracture frequency decreases with skeletal maturity but the spine deformities are progressive. The differential diagnosis includes arthrogryposis multiplex congenita, osteogenesis imperfecta types III and IV, recessively inherited osteogenesis imperfecta (MIM 610854 / 610682 / 610915), and congenital contractural arachnodactyly (CCA; MIM 121050). Bruck syndrome 2 is caused by mutations in the PLOD2 gene encoding lysyl hydroxylase 2. Bruck syndrome 1 is linked to an unidentified gene mapping to 17p12. Bruck syndrome 1 and 2 are phenotypically identical.