Living with Aicardi syndrome
A condition that occurs almost only in females, with a missing or underdeveloped brain connection, infant seizures, and eye defects.
Understanding Aicardi syndrome
The three main features are a missing or underdeveloped corpus callosum (the tissue connecting the two halves of the brain), seizures that start in infancy (infantile spasms), and eye defects called chorioretinal lacunae. Many people have other brain differences and a small head. Most have moderate to severe developmental delay and intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or small cerebellum
- Small head size (microcephaly)
- Eye problems, such as small eyes
- Abnormal pigment in the retina
- Spine bone differences (block or butterfly vertebrae)
- Cleft ribs
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Aicardi Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists X-linked inheritance for this condition. It doesn't describe a specific cause.
Also known as: agenesis of corpus callosum with chorioretinal abnormality; aic; aic - aicardi syndrome; aicardi syndrome, x-linked dominant; aicardi's syndrome; aicardi’s syndrome
Patient organizations
- Aicardi Syndrome FoundationAicardi syndrome · United States
- National Organization of Disorders of the Corpus CallosumAicardi syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Aicardi syndrome.
Explore research for Aicardi syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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