Till now, mutations in the FLNB gene were mainly identified in five human skeletal disorders: spondylocarpotarsal syndrome (SCT; OMIM:272460), Larsen syndrome (LRS; OMIM:150250), type I atelosteogenesis (AO1; OMIM:108720), type III atelosteogenesis (AO3; OMIM:108721), and boomerang dysplasia (BD; OMIM:112310). This evidence concerns the gene FLNB and spondylocarpotarsal synostosis syndrome.