Kalay et al. [15] reported a major pathogenic mutation in the RIPK4 gene that leads to Bartsocas-Papas syndrome: c.362 T > A, resulting in the amino acid at position 121 changing from isoleucine to asparagine (p.Ile121Asn), indicating an impact on RIPK4’s stability and kinase activity, and leading to severe multiple malformations. Here, RIPK4 is linked to Bartsocas-Papas syndrome 1.