In addition to the syndromic forms of limb anomalies, including ectrodactyly, caused by FGFR1 mutations, isolated SHFM has been observed in a single family harboring a c.787_789del (p.Ala263del) heterozygous variant in the FGFR1 gene [15]. This evidence concerns the gene FGFR1 and Split hand-split foot malformation.