Spondylocarpotarsal Synostosis Syndrome

About the Disease
Spondylocarpotarsal Synostosis Syndrome, also known as vertebral fusion with carpal coalition, is related to synostosis and atelosteogenesis. An important gene associated with Spondylocarpotarsal Synostosis Syndrome is FLNB (Filamin B), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include bone, eye and skin, and related phenotypes are abnormality of retinal pigmentation and frontal bossing

Common Targets
PXK | SCN7A | CHST3 | MYH3 | RFLNA | FLNB | COL21A1

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