Differential diagnosis
Since many of the characteristics of iniencephaly, such as congenital retroflexion of the spine and fusion of the cervical vertebrae, are shared with other disorders, key differences are important to note.While anencephaly experiences a partial to total lack of the neurocranium, iniencephaly does not. In anencephaly, the retroflexed head is not covered with skin while in iniencephaly, the retroflexed head is covered with skin entirely. Cervical vertebrae are malformed and reduced in iniencephaly while they are almost normal in anencephaly.Even though KFS does experience malformed cervical vertebra due to failure of segmentation during early fetal development, there is not retroflexion of the head as seen in iniencephaly. While iniencephaly clausus is fatal, KFS is not and can be surgically corrected. Therefore, it is crucial to correctly diagnose KFS and not mistake it for iniencephaly clausus. Prevention
Pregnant mothers are advised to take folic acid supplements to reduce risk of iniencephaly by up to 70%. Pregnant mothers are also advised not to take antiepileptic drugs, diuretics, antihistamines, and sulfa drugs, all of which have been associated with increased risk for neural tube defects. Treatment
Since newborns with iniencephaly so rarely survive past childbirth, a standard treatment does not exist. Prognosis
Iniencephaly of both types carry a lethal prognosis, sometimes even ending in spontaneous abortion or stillborns. Most infants die within hours of childbirth. There are only seven reported cases of relatively long-term survival of those born with iniencephaly.
As not all cases of ring chromosome 20 syndrome are the same, different individuals may respond to treatment in different ways.Alternates to antiepileptic drug treatment include the ketogenic diet and vagus nerve stimulation but not epilepsy surgery. Ketogenic Diet
The ketogenic diet is a high fat, low carbohydrate diet reserved for intractable childhood epilepsies. There are no published reports on the use of the ketogenic diet in patients with ring chromosome 20 syndrome. However, its efficacy and safety are well established in other difficult to control epilepsy syndromes. Epilepsy Surgery
Epilepsy surgery investigations are performed to identify a discrete seizure focus. Extensive investigations in ring chromosome 20 syndrome  patients fails to identify a discrete seizure focus and published data supports that that epilepsy in ring chromosome 20 syndrome  is not amenable to resective surgery. The Cost ranges between £50,000 - £200,000. VNS Therapy
The vagal nerve stimulator is a battery-powered device similar to a pacemaker that is implanted under the skin. It delivers a mild electrical stimulation to the brain via the vagus nerve and has proven to be effective for the treatment of complex partial seizures. There are only a few published reports on the success of this therapy in ring chromosome 20 epilepsy syndrome, making it unclear if this is the optimal therapy. Prognosis
Limited data is available for the long-term prognosis of ring chromosome 20 syndrome since only over 60 patients with this syndrome have been reported in published literature.