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ENBruck Syndrome 2 (BRKS2)
Alias:
Osteogenesis Imperfecta with Congenital Joint Contractures
Brks2
Osteogenesis Imperfecta Congenital Joint Contractures
Bruck Syndrome, Type 2
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Bruck Syndrome 2, also known as osteogenesis imperfecta with congenital joint contractures, is related to dentinogenesis imperfecta and torticollis. An important gene associated with Bruck Syndrome 2 is PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2). Affiliated tissues include bone, and related phenotypes are osteopenia and inguinal hernia
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MALACARDS
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