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ENBruck Syndrome
Alias:
Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Osteogenesis Imperfecta with Congenital Joint Contractures
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Bruck Syndrome, also known as osteogenesis imperfecta-congenital joint contractures syndrome, is related to bruck syndrome 1 and scoliosis. An important gene associated with Bruck Syndrome is FKBP10 (FKBP Prolyl Isomerase 10), and among its related pathways/superpathways are Collagen chain trimerization and Extracellular matrix organization. Affiliated tissues include bone and bone marrow, and related phenotypes are joint stiffness and short stature
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