Genetic syndrome with partial or complete absence of corpus callosum and eye abnormalities.Encyclopedia Entry for Aicardi Syndrome :Aicardi syndrome. The cause of Aicardi syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene defect on the X chromosome. The disorder affects only girls.Symptoms most often start when the child is between ages 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure. Aicardi syndrome may occur with other brain defects. Other symptoms may include: Coloboma (cat's eye) Intellectual disability Smaller-than-normal eyes (microphthalmia).Children are diagnosed with Aicardi syndrome if they meet the following criteria: Corpus callosum that is partly or completely missing Female sex Seizures (typically beginning as infantile spasms) Sores on the retina (retinal lesions) or optic nerve In rare cases, one of these features may be missing (especially lack of development of the corpus callosum). Tests to diagnose Aicardi syndrome include: CT scan of the head EEG Eye exam MRI Other procedures and tests may be done, depending on the person.Treatment is done to help prevent symptoms. It involves managing seizures and any other health concerns. Treatment uses programs to help the family and child cope with delays in development.Aicardi Syndrome Foundation -- ouraicardilife.org National Organization for Rare Disorders (NORD) -- rarediseases.org.The outlook depends on how severe the symptoms are and what other health conditions are present. Nearly all children with this syndrome have severe learning difficulties and remain completely dependent on others. However, a few have some language abilities and some can walk on their own or with support. Vision varies from normal to blind.Complications depend on the severity of symptoms.Call your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having spasms or a seizure.Agenesis of corpus callosum with chorioretinal abnormality; Agenesis of corpus callosum with infantile spasms and ocular abnormalities; Callosal agenesis and ocular abnormalities; Chorioretinal anomalies with ACC.Corpus callosum of the brain Corpus callosum of the brain.Beres S. Aicardi syndrome. American Academy of Ophthalmology Web site. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Accessed September 27, 2016. Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system.