The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.
For more information on this rare disease, please refer to Genetic and Rare Diseases (GARD) Information Center – Aicardi Syndrome1 and Orphanet: Aicardi syndrome.2
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Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research | Rare Disease Organisation(s) | Social Services | Mental Health | Other | References
There may be special considerations for the emergency management of individuals living with Aicardi syndrome presenting to emergency departments.
Clinical Care Guidelines
Clinical Care Guidelines for Aicardi syndrome are yet to be developed in Australia.
Agenesis of corpus callosum with chorioretinal abnormality
ICD-11: LD20.Y Other specified syndromes with central nervous system anomalies as a major feature
Aicardi syndrome is a disorder of early brain development (neurodevelopmental disorder) that presents mainly in females.1-4 The cause of Aicardi syndrome is unknown, but it is thought to be a genetic condition caused by mutations in a gene on the X chromosome.
Aicardi syndrome is typically characterized by three main features, known as the classic triad1-4:
- Agenesis of the corpus callosum – tissue that connects the right and left sides of the brain is completely or partially missing
- Chorioretinal lacunae – holes at the back part of the eye (retina)
- Infantile spasms – a type of severe seizure in infants
Some individuals with Aicardi syndrome may not have all three of the classic features.3 Other features associated with Aicardi syndrome include other types of brain abnormalities, seizures and eye defects, as well as developmental delay, intellectual disability, characteristic facial features and sideways curvature of the spine (scoliosis).4
Please note that Aicardi syndrome is different from Aicardi-Goutières syndrome.
Human Phenotype Ontology (HPO) – search for Aicardi Syndrome
Aicardi syndrome may affect brain development, eyes, facial appearance (resulting in characteristic facial features) and skeletal structure.1-4 Individuals with Aicardi syndrome may present with seizures, developmental delay and intellectual disability.
GeneReviews® : Aicardi Syndrome (Clinical Characteristics) has more information about clinical features and findings that have been associated with Aicardi syndrome.
Please speak to your medical team to learn more about the symptoms and complications of Aicardi syndrome.
The cause of Aicardi syndrome is currently unknown but is thought to be genetic and due to mutations in a gene on the X chromosome.4
Diagnosis of Aicardi syndrome is made based on clinical features, brain imaging and skeletal findings.2,3
GeneReviews® : Aicardi Syndrome (Diagnosis) has information about diagnostic criteria proposed for Aicardi syndrome.
Please speak to your medical team to learn more about diagnosis of Aicardi syndrome.
There is no curative treatment for Aicardi syndrome, but there are strategies to manage the symptoms, which may involve a multidisciplinary medical team.
Please speak with your medical team to learn more about management strategies for Aicardi syndrome and its associated symptoms. Treatment will depend on an individual’s specific symptoms.
Healthcare professionals involved in the treatment of Aicardi syndrome may include general practitioners (GP), paediatricians, geneticists, neurologists, oncologists and ophthalmologists.1 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.
Please visit Australian Clinical Trials to learn about clinical trials for Aicardi syndrome in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for Aicardi syndrome in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.
It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.
Rare Disease Organisation(s)
AusDoCC provides support for people with corpus callosum disorders (CCD) in Australia and New Zealand.
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Please visit the National and State Services pages.
Please visit the ‘Mental Health’ sections listed on the National and State Services pages.
Further information on Aicardi syndrome can be found at:
- Genetic and Rare Diseases (GARD) Information Center. Aicardi syndrome. Accessed July 24, 2023. https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome
- Aicardi syndrome. Accessed July 24, 2023.https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=254&Disease_Disease_Search_diseaseGroup=Aicardi-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Aicardi-syndrome&title=Aicardi%20syndrome&search=Disease_Search_Simple
- GeneReviews® – Aicardi Syndrome [Internet]. 2006. [updated 2020 November 12]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1381/
- OMIM – Online Mendelian Inheritance in Man. #304050 – AICARDI SYNDROME; AIC. Accessed July 24, 2023. https://www.omim.org/entry/304050
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