Bruck syndrome

Bruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta. Each disease is uncommon and having both is extremely rare, which makes the syndrome very difficult to research. It is thought to be an atypical variant of osteogenesis imperfecta, most resembling type III, if not a disease of its own, because the gene mutations associated with osteogenesis imperfecta are not seen in it. Many affected people belong to the same family, and pedigree data support autosomal recessive inheritance. Features include congenital contractures, bone fragility, recurring fractures, deformities of flexed joints and limbs, pterygia, short stature and progressive kyphoscoliosis. Mobility and lung function are restricted, joint contractures are mostly bilateral and symmetrical and most prone to the ankles, and the syndrome has no effect on intelligence, vision or hearing.