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Aicardi syndrome, named after the doctor who first described it, is a difficult disease that almost exclusively affects girls, and is usually diagnosed fairly early in life because of its symptoms. It should be noted that the disease can even more rarely affect boys, but only if they have XXY chromosomes. The disease is thus thought to be sex-linked, but exactly how it occurs isn't precisely known. There doesn’t seem a clear pattern of genetic inheritance.
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Further patient study demonstrated other less consistent characteristics outside the classic triad of findings. These additional characteristics include abnormal facies, cleft lip and palate, vertebral body abnormalities, and abnormalities of neuronal migration.Although cases occur throughout the world, exact incidence and prevalence is unknown. In a series of children with infantile spasm.If only visual abnormalities or developmental delays are present, the condition may not be recognized until the onset of seizures, or if ophthalmologic evaluations demonstrate characteristic chorioretinal lacunae, which are considered pathognomonic for Aicardi syndrome.