According to Online Mendelian Inheritance in Man (OMIM), mutations in GDF6 (MIM: 601147), MEOX1 (MIM: 600147), GDF3 (MIM: 606522), MYO18B (MIM: 607295) and RIPPLY2 (MIM: 609891) have been associated with KFS [10–15]. This evidence concerns the gene MYO18B and Klippel-Feil syndrome 1, autosomal dominant.