The disease was first introduced and diagnosed in three patients in 1996 by Irons and Bianchi as a syndrome comprised of hydrops fetalis, congenital lymphedema, cardiac malformations especially atrial septal defect (ASD), and dysmorphic facies with prominent epicanthus. These were two live-born brothers with one hydropic female who died after birth. Two other cases were also in 2007 and 2009 which were reported by van Steensel et al. and Levine et al. An autosomal recessive inheritance pattern was suggested for the disease. Signs and symptoms included cutaneous, craniofacial, lymphatic, cardiovascular, genitalia, and developmental manifestations. The diagnosis is clinical, however, genetic evaluation should be performed to exclude other underlying causes of lymphedema. The main treatment approach is manual lymph drainage and compression therapy while operative or non-operative management of ASD should be performed as well.