DSG2 and Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type: After the discovery of JUP gene, additional causal autosomal dominant mutations were identified in desmosome genes, such as plakophilin-2 (PKP2) (Gerull et al., 2004; den Haan et al., 2009), desmoplakin (DSP) (Rampazzo et al., 2002), desmoglein-2 (DSG2) (Pilichou et al., 2006; Gehmlich et al., 2010), and desmocollin-2 (DSC2) (Syrris et al., 2006); in addition, ACM autosomal dominant forms due to JUP (De Deyne et al., 2006) and recessive forms due to DSP (Norgett et al., 2000) and DSC2 (Al-Sabeq et al., 2014) mutations have been identified, usually in the context of cardiocutaneous syndromes.