Heterozygous pathogenic variants in FLNB account for the majority of patients with Larsen syndrome; however, recently discovered homozygous pathogenic variants in CHST3 (OMIM 603799) and B4GALT7 (OMIM 604327) confirm the existence of recessive forms (Cartault et al., 2015; Hermanns et al., 2008). The gene discussed is FLNB; the disease is Larsen syndrome.