Spondylocarpotarsal Synostosis Syndrome (SCT)

Spondylocarpotarsal Synostosis Syndrome, also known as vertebral fusion with carpal coalition, is related to synostosis and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b. An important gene associated with Spondylocarpotarsal Synostosis Syndrome is FLNB (Filamin B), and among its related pathways/superpathways is Striated muscle contraction pathway. Affiliated tissues include bone and eye, and related phenotypes are abnormality of retinal pigmentation and frontal bossing