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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010568/OMIM:304050","MONDO:0010568/ORPHA:50"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":104,"sourceGroups":{"omim":54,"orphanet":50,"published":0}},"features":[{"hpoId":"HP:0007703","label":"Abnormal retinal pigmentation","primary":false},{"hpoId":"HP:0001000","label":"Abnormal skin pigmentation","primary":false},{"hpoId":"HP:0000951","label":"Abnormality of the skin","primary":false},{"hpoId":"HP:0000463","label":"Anteverted nares","primary":false},{"hpoId":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","primary":false},{"hpoId":"HP:0000892","label":"Bifid ribs","primary":false},{"hpoId":"HP:0003305","label":"Block vertebrae","primary":false},{"hpoId":"HP:0003316","label":"Butterfly vertebrae","primary":false},{"hpoId":"HP:0030731","label":"Carcinoma","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0002389","label":"Cavum 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It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).","mondoId":"MONDO:0010568","records":[{"frequencyKind":"range","key":"028e80591427f7f2b099e61ff8a1f2edf594c41d9ded5432cda71b7faa38bde2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:50","disease_name":"Aicardi syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002119","is_excluded":false,"label":"Ventriculomegaly","onset_id":null,"reference":"ORPHA:50","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"03396184047f15f3e31637d5ac53bee005c3ec52689088a0b66fb13ba8e267d2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:304050","disease_name":"Aicardi syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002188","is_excluded":false,"label":"Delayed CNS 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in women and girls, researchers believe that Aicardi syndrome is caused by changes in a gene on the X chromosome. Genetic changes that cause disease are called pathogenic variants.</p><p>People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY).</p><p>Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in cells other than egg and sperm cells. This process is called X-inactivation. X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. X-inactivation usually occurs randomly, so that each X chromosome is active in about half the body&#x27;s cells. Sometimes, however, X-inactivation is not random. This is called skewed X-inactivation.</p><p>Skewed X-inactivation sometimes occurs when there is a pathogenic variant in one of the X chromosomes in each cell. Skewed X-inactivation has been identified in some women and girls with Aicardi syndrome. This could explain why some people with Aicardi syndrome are more severely affected than others. Skewed X inactivation also supports the idea that the condition is caused by a pathogenic variant in a gene on the X chromosome. However, the gene that contains this variant has not been identified.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/aicardi-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Aicardi syndrome?"},{"bodyHtml":"<p>People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities (ventricles) near the center of the brain. Some have an unusually small head (microcephaly). Most affected individuals have moderate to severe developmental delay and intellectual disability, although some people with this disorder have milder disability.</p><p>In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals.</p><p>Some people with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows. Other features of this condition include small hands, hand malformations, and spinal and rib abnormalities leading to progressive abnormal curvature of the spine (scoliosis). They often have gastrointestinal problems such as constipation or diarrhea, gastroesophageal reflux, and difficulty feeding.</p><p>The severity of Aicardi syndrome varies. Some people with this disorder have very severe epilepsy and may not survive past childhood. Less severely affected individuals may live into adulthood with milder signs and symptoms.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/aicardi-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"aicardi-syndrome","sourceDocuments":[{"name":"Aicardi syndrome","reviewed":"2010-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:12.326758+00:00","label":"Causes","pageSha256":"f0fbfaa55f46877cb15259131ce0b8a2577aa6db6739307d4a608dc0b3f828cb","sourceUrl":"https://medlineplus.gov/genetics/condition/aicardi-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/aicardi-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Aicardi syndrome"},"schemaVersion":1}