We identified already described pathogenic variants confirming the clinical diagnoses of SHORT Syndrome in patient P10, of Buschke-Ollendorf syndrome in patient P12, of Branchio-Oculo-Facial Syndrome (BOFS) in patient P4 and of Oculodentodigital Dysplasia in patient P16 (Table 1), respectively in the PIK3R1, LEMD3/MAN1, TFAP2A and GJA1 genes [39–42]. The gene discussed is GJA1; the disease is Branchio-oculo-facial syndrome.