Aicardi Syndrome (also known as Syndrome, Aicardi, Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality): A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.

NIH MeSH · D058540Diseases

Aicardi Syndrome

Also known asSyndrome, Aicardi · Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality · Aicardi's Syndrome · Syndrome, Aicardi's · Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities · Callosal Agenesis and Ocular Abnormalities · Chorioretinal Anomalies with Acc · Agenesis of Corpus Callosum with Chorioretinal Abnormality

Definition

A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.

MeSH classification

  • C10.500.034.687
  • C11.270.019
  • C16.131.162
  • C16.131.666.034.687
  • C16.320.290.019
  • C16.320.322.030

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Related concepts

Acrocallosal Syndrome

Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRAN…

Agenesis of Corpus Callosum

Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI…

Common questions about Aicardi Syndrome

What does Aicardi Syndrome mean in medicine?
A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE. This definition is taken from the National Library of Medicine's MeSH (Medical Subject Headings) 2026 release, which is the standard vocabulary used to index PubMed and most medical literature.
Is Aicardi Syndrome known by any other names?
Yes. Aicardi Syndrome is also referred to as Syndrome, Aicardi, Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality, Aicardi's Syndrome, Syndrome, Aicardi's in different clinical, research and patient-facing contexts. The MeSH descriptor groups all of these synonyms under a single canonical concept so research and records stay consistent.
Where does Aicardi Syndrome sit in the medical classification?
Aicardi Syndrome falls under the broader medical category "Diseases" in the MeSH hierarchy (tree numbers: C10.500.034.687, C11.270.019, C16.131.162). Browsing the related concepts on this page takes you to neighbouring topics in the same branch of medicine.
Where can I get a plain-language explanation of Aicardi Syndrome?
For a plain-language explanation of Aicardi Syndrome - including symptoms, treatments and what it means for an Indian patient - ask GoDavaii's Health AI. It works in 90+ languages, is free and needs no signup. Tap "Ask GoDavaii AI about Aicardi Syndrome" above.

Source: NIH MeSH 2026 (D058540) — National Library of Medicine, public domain. View official MeSH record ↗