Dysencephalia splachnocyxtica is not an ordinary ailment and is characterized by a severe genetic disorder that primarily affects the kidney along with some related cystic dysplasia, that causes the malfunctioning of the central nervous system and can eventaully create several hepatic developmental defects.

Dysplastic kidneys are prevalent in roughly around 95% to 100% of all identified cases. When this medical condition occurs, microscopic cysts are found to develop well within the kidney and s lowly affects the kidney function and eventually destroys it, thereby causing it to grow and enlarge to as much as 10 - 20 times its original size. The level of the amniotic fluid within the womb may be found to be significantly altered or remain to be quite normal, and a normal level of the fluid should not be used as a main criteria for the exclusion of the diagnosis. Occipital Cepholocele is also found to present in 60% to 80% of majority of the cases wioth the similar condition, and post-axial polydactyly is present in 55% to 75% of the total number of identified cases. The bowing or the shortening of the patient's limbs are also found to be quite common. Finding at least two out of the three prevailing features of this classical triad, in the presence and in view of the normal karyotype, makes the diagnosis for Dysencephalia splachnocyxtica more solid and definitive. Regular ultrasounds are required to monitor progress and the pro-active prenatal care can usually help effectively detect symptoms early on in the pregnancy.

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