Aicardi Syndrome

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Yang, C. Aicardi Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4664 (accessed on 29 September 2026).

Yang C. Aicardi Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4664. Accessed September 29, 2026.

Yang, Catherine. "Aicardi Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4664 (accessed September 29, 2026).

Yang, C. (2020, December 24). Aicardi Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4664

Yang, Catherine. "Aicardi Syndrome." Encyclopedia. Web. 24 December, 2020.

Aicardi Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/aicardi-syndrome

Aicardi syndrome is a disorder that occurs almost exclusively in females. 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).

genetic conditions

References

Aicardi J. Aicardi syndrome. Brain Dev. 2005 Apr;27(3):164-71. Review.
Anderson S, Menten B, Kogelenberg Mv, Robertson S, Waginger M, Mentzel HJ,Brandl U, Skirl G, Willems P. Aicardi syndrome in a male patient.Neuropediatrics. 2009 Feb;40(1):39-42. doi: 10.1055/s-0029-1220760.
Chappelow AV, Reid J, Parikh S, Traboulsi EI. Aicardi syndrome in a genotypic male. Ophthalmic Genet. 2008 Dec;29(4):181-3. doi: 10.1080/13816810802320209.
Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Vanden Veyver IB. Non-random X chromosome inactivation in Aicardi syndrome. HumGenet. 2009 Mar;125(2):211-6. doi: 10.1007/s00439-008-0615-4.
Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van denVeyver IB. Phenotype and management of Aicardi syndrome: new findings from asurvey of 69 children. J Child Neurol. 2007 Feb;22(2):176-84.
Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P. Aicardisyndrome with favorable outcome: case report and review. Brain Dev. 2007Aug;29(7):443-6.
Kroner BL, Preiss LR, Ardini MA, Gaillard WD. New incidence, prevalence, andsurvival of Aicardi syndrome from 408 cases. J Child Neurol. 2008May;23(5):531-5. doi: 10.1177/0883073807309782.
Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB. Facialand physical features of Aicardi syndrome: infants to teenagers. Am J Med GenetA. 2005 Oct 15;138A(3):254-8.
Sutton VR, Van den Veyver IB. Aicardi Syndrome. 2006 Jun 30 [updated 2020 Nov 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1381/
Zubairi MS, Carter RF, Ronen GM. A male phenotype with Aicardi syndrome. JChild Neurol. 2009 Feb;24(2):204-7. doi: 10.1177/0883073808322337.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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