Not to be confused with Aicardi–Goutières syndrome.
Medical condition
Aicardi syndrome
Other names
Agenesis of corpus callosum with chorioretinal abnormality[1]
Specialty
Medical genetics, Neurology
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms.[2] Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. So far, the syndrome has only been diagnosed in girls and in boys with two X chromosomes (Klinefelter syndrome).[3]
Those with Aicardi syndrome are in need of various specialist and habilitation instances. Epilepsy is treated with medication, but additional treatment may also be needed. In order to utilize the girls' eyesight and investigate the need for visual aids, examination by ophthalmologist is indicated early in life. Problems from the gastrointestinal tract are frequent. In adulthood, continued habilitation efforts and support in daily life are needed.[3]
The syndrome is named after the French child neurologist Jean Dennis Aicardi, who in 1965 described it in eight girls.[3] A causative gene has not been identified. Symptoms typically appear before a baby reaches about 5 months of age.[citation needed]
^RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Aicardi syndrome". www.orpha.net. Archived from the original on 10 March 2018. Retrieved 17 June 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
^Rosser, Tena (1 October 2003). "Aicardi Syndrome". Archives of Neurology. 60 (10): 1471–3. doi:10.1001/archneur.60.10.1471. PMID 14568821.
^ abcKyllerman, Mårten (2015-10-08). "Aicardis syndrom" [Aicardi syndrome]. Rare Health Conditions Knowledge Base (in Swedish). The National Board of Health and Welfare (Sweden). Retrieved 2022-12-06.
Aicardisyndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus...
disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardisyndrome). There is disagreement over the definitions and criteria...
from autosomal traits. One example of an X-linked trait is Coffin–Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This mutation...
Some syndromes that frequently include ACC are:[citation needed] Acrocallosal syndromeAicardisyndrome Andermann syndrome Donnai–Barrow syndrome Dwarfism...
years. Some syndromes often associated with ACC include Aicardisyndrome, Andermann syndrome, Shapiro syndrome, and acrocallosal syndrome. ACC is usually...
suspected that the gene(s) responsible may lie on the X chromosome. Aicardisyndrome Encephalocraniocutaneous lipomatosis Focal dermal hypoplasia Oculo-auriculo-vertebral...
safe current in an electrical circuit AIC (gene), which encodes the Aicardisyndrome protein Australian Institute of Criminology, an Australian research...
Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. Syndromic...
These syndromes include Aicardi-Goutieres syndrome, amyotrophic lateral sclerosis, ataxia-telangiectasia, Cockayne syndrome, fragile X syndrome, Friedrich's...
Benjamin Del Castillo Aicardi syndrome – Jean AicardiAicardi–Goutières syndrome – Jean Aicardi, Francoise Goutieres Alagille syndrome – Daniel Alagille Albers-Schönberg...
PMID 10961795. S2CID 25866946. Aicardi J and Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern. Epileptic Syndromes in Infancy, Childhood and...
Interagency Networking Council, and served on the planning committee of the AicardiSyndrome Family Conference. In 2017, the Thomases and Mary Robinette Kowal crafted...
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) is an autosomal recessive and dominant, progressive neurodegenerative...
ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi–Goutières syndrome (AGS), an autosomal recessive neurological disorder characterized...
ribonuclease activity. The SAMHD1 protein is also known as: AGS5: Aicardi- Goutières syndrome type 5 DCIP: Dendritic cell-derived IFNG-induced protein2 Mg21:...
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