Aicardi syndrome is a disorder of early brain development (neurodevelopmental disorder) that presents mainly in females.^1-4 The cause of Aicardi syndrome is not well understood, but it is thought to be a genetic condition linked to the X chromosome.

Aicardi syndrome is typically characterised by three main features, known as the classic triad:^1-4

• 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.

Agenesis of corpus callosum with chorioretinal abnormality; AIC; Aicardi syndrome, X-linked dominant; Aicardi’s syndrome; corpus callosum agenesis of with chorioretinal abnormality; corpus callosum, agenesis of, with chorioretinal abnormality.¹

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:50 Aicardi syndrome

ICD-11: LD20.Y Other specified syndromes with central nervous system anomalies as a major feature

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.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Aicardi syndrome is thought to be a genetic condition. The gene for Aicardi syndrome has not yet been identified but it is thought to be due to disease-causing genetic changes (variants) in a gene on the X chromosome.^3,4

There are no published consensus clinical diagnostic criteria for Aicardi syndrome.³ Diagnosis of Aicardi syndrome may made based on clinical features, brain imaging and skeletal findings.^2,3

GeneReviews® : Aicardi Syndrome (Diagnosis) has information about proposed diagnostic criteria for Aicardi syndrome.

Please speak to your medical team to learn more about the available diagnostic pathways for Aicardi syndrome. 

There is currently no curative treatment for Aicardi syndrome. Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. This may include physiotherapy, occupational therapy, speech therapy, feeding therapy, seizure management as well as treatment of abnormal vision and scoliosis if required.³

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

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.

We are not aware of any clinical care guidelines for Aicardi syndrome in Australia. If you know of any relevant care guidelines, please let us know via the  Contribute page. 

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

Australian Disorders of the Corpus Callosum (AusDoCC)
Website: https://www.ausdocc.org.au/

AusDoCC provides support for people with corpus callosum disorders (CCD) in Australia and New Zealand.

International Organisations:
Aicardi Syndrome Foundation (United States)
Website: http://aicardisyndromefoundation.org/

Corpal DCC & Aicardi Syndrome UK (United Kingdom)
Website: https://corpal.org.uk/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Aicardi syndrome varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Aicardi syndrome can be found at:

• National Organisation for Rare Disorders (NORD): Aicardi Syndrome

GeneReviews®: Aicardi Syndrome

Orphanet: Aicardi syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.