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Aicardi syndrome is a rare neurodevelopmental disorder that occurs primarily in girls and women. It is classically associated with abnormalities of the corpus callosum, distinctive chorioretinal lacunae, and seizures beginning in infancy. Not every affected person has the complete classic triad, and rare cases have been reported in boys and men. MedlinePlus Genetics GeneReviews
This page is educational. Diagnosis, seizure treatment, feeding and swallowing decisions, and communication supports should be individualized by the person's clinical team.
Cause and inheritance
The cause of Aicardi syndrome remains unknown. Evidence has suggested an X-linked mechanism, but no causative gene has been established. Aicardi syndrome should therefore not be described as a confirmed single-gene disorder, and there is no diagnostic genetic test for it. Nearly all reported cases are sporadic, and parent-to-child transmission has not been documented. MedlinePlus Genetics GeneReviews
Aicardi syndrome is distinct from Aicardi-Goutières syndrome.
Clinical features
The presentation varies. Important features can include:
- Infantile spasms or other seizures, usually beginning during the first year of life and often in the first months.
- Complete or partial agenesis or dysgenesis of the corpus callosum and other brain malformations.
- Chorioretinal lacunae and other optic nerve or eye abnormalities that may affect vision.
- Developmental delay and intellectual disability of widely varying severity.
- Feeding or gastrointestinal difficulties.
- Differences in muscle tone and motor control.
- Rib or vertebral abnormalities and scoliosis.
Seizure type, vision, mobility, communication, learning, and health needs differ substantially among individuals. Survival is also variable and should not be predicted from the diagnosis alone. MedlinePlus Genetics
Diagnosis
Diagnosis is clinical. It draws on the seizure history, ophthalmologic examination, brain imaging, electroencephalography, and the overall pattern of findings. Historically, the classic triad was central to diagnosis; current expert work recognizes a broader range of presentations. A 2026 expert Delphi refined major, supportive, and alert diagnostic features while retaining the historical triad, but it did not produce a fixed diagnostic algorithm. Those features should inform clinical judgment alongside imaging, ophthalmology, and EEG; ongoing validation and updates remain necessary given unresolved etiology. Prefer the 2026 consensus language for diagnostic framing over older single-feature rules of thumb. 2026 diagnostic consensus
Assessment commonly involves pediatric neurology, ophthalmology, radiology, and clinical genetics. Genetic testing may be used to evaluate alternative diagnoses, but a negative or positive result for an unrelated gene does not itself establish Aicardi syndrome.
Coding systems change and may differ by jurisdiction. Confirm diagnosis and billing codes in the current official coding system rather than copying a code from this page.
Management and surveillance
There is no single treatment for Aicardi syndrome. Management addresses each person's seizures, vision, nutrition, swallowing, mobility, posture, bone and spine health, communication, learning, and participation. Long-term involvement of a pediatric neurologist experienced with infantile spasms and treatment-resistant epilepsy is important. GeneReviews
Follow-up may include:
- Review of seizure type, frequency, rescue planning, treatment response, and adverse effects.
- Growth, nutrition, hydration, gastrointestinal symptoms, oral intake safety, and aspiration risk.
- Ophthalmologic assessment and functional vision support.
- Respiratory health, sleep, mobility, range of motion, scoliosis, and pain.
- Development, education, communication, and family support needs.
Urgent medical evaluation may be needed for a prolonged or unusual seizure, breathing difficulty, choking or suspected aspiration, severe dehydration, acute loss of alertness, or another sudden change. Families should follow the person's existing seizure and emergency plans.
Communication and AAC
Communication support should begin with observation of the individual's existing signals and should not assume that speech, motor ability, vision, or standardized-test performance reflects everything the person understands. A comprehensive AAC assessment considers communication purposes, sensory access, motor access, positioning, fatigue, seizure patterns, environments, partner skills, and the individual's preferences. ASHA AAC Practice Portal
Because Aicardi syndrome can involve significant retinal, optic nerve, and cortical visual differences, visual symbols and eye-gaze access should not be presumed to be strengths. They may work well for some people and poorly for others. Assessment should consider:
- Functional vision, visual field, contrast, symbol size, spacing, and visual complexity.
- Reliable movements for direct selection, switch access, partner-assisted scanning, or another method.
- Hearing and whether auditory choices or prompts improve access.
- Positioning, head support, fatigue, involuntary movement, and seizure recovery.
- A low-tech backup for times when a device cannot be used.
AAC should support a full range of communication, including refusal, consent, pain, social interaction, questions, choice, and self-advocacy. No particular symbol set, grid size, access method, or device is suitable for everyone with Aicardi syndrome.
Education and participation
Educational planning should be individualized and coordinated across family, educators, therapists, vision specialists, and the medical team. Accessible learning may involve adapted positioning, reduced visual complexity, tactile or auditory supports, switch access, partner-assisted scanning, frequent opportunities to communicate, and enough time to respond.
Changes in performance may reflect seizures, medication effects, fatigue, pain, vision, motor access, or an inaccessible task. They should prompt assessment and adaptation rather than an assumption that the person lacks communicative intent or learning potential.
Sources
- National Library of Medicine. Aicardi syndrome: MedlinePlus Genetics. Updated June 3, 2026.
- Sutton VR, Van den Veyver IB. Aicardi Syndrome. GeneReviews. Updated November 12, 2020. Prefer for etiology, counseling, and management surveillance; diagnostic-criteria landscape is partly updated by the 2026 Delphi below.
- Masnada S, et al. Refining Aicardi Syndrome diagnostic criteria: an expert-based consensus using a modified Delphi approach. European Journal of Paediatric Neurology. 2026;60:58-70. doi:10.1016/j.ejpn.2025.11.004. Prefer for current diagnostic-feature framing (not a fixed algorithm).
- Orphanet. Aicardi syndrome, ORPHA:50. Accessed July 21, 2026.
- American Speech-Language-Hearing Association. Augmentative and Alternative Communication Practice Portal. Accessed July 21, 2026.