In this study, we have identified three previously non-described variants in the FGF16 gene in three unrelated cases with MF4: one nonsense mutation c.361G>T (p.G121*) in exon 2 and two likely pathogenic variants; c.203G>T (p.R68L) in exon 1 and c.378G>C in exon 2. The gene discussed is FGF16; the disease is syndactyly type 8.