Biallelic loss of function mutations leading to loss of FLNB cause SCT, while heterozygosity for missense mutations in FLNB produces a spectrum of autosomal dominant skeletal disorders including boomerang dysplasia (OMIM 112310); Larsen syndrome (OMIM 150250); and atelosteogenesis I and III (AOI, OMIM 108720; AOIII, OMIM 108721). The gene discussed is FLNB; the disease is Autosomal dominant Larsen syndrome.