Meckel syndrome is a major autosomal recessive monogenic malformation syndrome with a neural tube defect leading to death of the fetus in utero or shortly after birth. It comprises of a classical triad of occipital meningo-encephalocele, infantile polycystic kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. Other features include facial clefts, microcephaly, cerebellar and cerebral hypoplasia, hydrocephalous, sloping forehead, congenital heart disease and pulmonary hypoplasia. Genital anomalies are hypoplastic penis, cryptorchidism, Mullerian-duct remnants and epididymal cysts in males. Septate vagina and hypoplastic or bicornuate uterus may, be associated in females. Pulmonary hypoplasia is the leading cause of death. The incidence of this syndrome worldwide varies from 1 in 13,250 to 1 in 140,000 live births.