Bruck syndrome is a rare autosomal recessive condition characterized by a combination of congenital joint contractures and osteogenesis imperfecta. The onset of fractures becomes evident in infancy or early childhood. Few cases (<40) have been reported in the literature. The symptoms of Bruck syndrome include osteoporosis and bone fragility, progressive joint contractures which may be seen with pterygia, wormian bones, scoliosis due to vertebral deformities and postnatal short stature. Mental development of the patients is intact.
Two distinct genetic loci have been linked to Bruck Syndrome. One of these, located on the long arm of chromosome 17, maps to the FKBP10 gene. The other locus maps to the PLOD2 gene and is referred to as giving rise to Bruck Syndrome 2. The FKBP10 gene contains 10 exons and the encoded protein contains 582 amino acids. FKBP10 is thought to function as a collagen chaperone and to assist in collagen folding.
