Diseases title

Bruck syndrome )

Orpha Number: 2771
Osteogenesis imperfecta - congenital joint contractures

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. Prevalence is unknown but less than 40 cases have been reported in the literature so far. Features include osteoporosis and bone fragility, progressive joint contractures sometimes associated with pterygia, wormian bones, scoliosis due to vertebral deformities and short stature. Mental development is normal. The syndrome is genetically heterogeneous: the locus was mapped to chromosome 17p12 in one family (Bruck syndrome 1) but mutations in the PLOD2 gene (3q24) encoding telopeptide lysyl hydroxylase (Bruck syndrome 2) have been identified in other affected individuals. Transmission is autosomal recessive.
source: Orphanet