By thoroughly reviewing the spectrum of SPECC1L mutations-associated phenotypes, the authors concluded that, although the phenotypes observed in those patients overlap with OS signs, some clinical manifestations peculiar to OS are not observed in patients carrying mutations in the SPECC1L gene, i.e., hypospadias and laryngeal clefts, proposing the novel designation of ‘SPECC1L syndrome’ to refer to this disorder instead of autosomal dominant Opitz G/BBB Syndrome. Here, SPECC1L is linked to hypospadias.