National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Aicardi syndrome

Aicardi syndrome is a rare neurological disorder. The severity of the syndrome and the associated signs and symptoms vary from person to person. The three main features of Aicardi syndrome are:[1][2]
  • Complete or partial absence of the nerve tissue that allows the right and left sides of the brain to communicate (corpus callosum)
  • Seizures beginning in infancy (infantile spasms), that may become hard to control (refractory epilepsy)
  • Defects or holes in the light sensitive tissue at the back of the eye (retina) known as chorioretinal lacunae
Other signs and symptoms may include:[3][1][4]
  • Developmental delay
  • Intellectual disability that ranges from very mild to severe
  • Characteristic facial features, such as a short distance between the nose and lips, a flat nose, large ears and thin eyebrows.
  • Other brain malformations such as a very small head (microcephaly)
  • Other eye defects, such as very small eyes (microphthalmia) or a defect of the nerve connecting the retina to the brain  (optic nerve) known as coloboma.
The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change (mutation) in a gene located on the X-chromosome and inherited in a dominant X-linked manner. However, most cases are de novo, which means the genetic change happened by mistake during the making of the egg or the sperm and there are no other cases of the syndrome in the family. While there is no known cure for Aicardi syndrome, there are treatments that can help control symptoms.[3][1][4]  Seizures may be treated with ketogenic diet and different types of anti-seizure medications. If medication does not control the seizures, a vagal nerve stimulator may be used or, in more severe cases, surgery may be considered. Other treatment may include physical therapy, speech therapy, and occupational therapy, as well as support for skeletal and muscle problems to prevent scoliosis related complication.[1][5] Speech is usually very limited, while other abilities and disabilities vary greatly.  In cases of severe epilepsy and/or if there are serious brain or eye defects,  the intellectual disabilities tend to be more severe. The life span of girls with Aicardi syndrome usually averages between 8 and 18 years, but several women with milder symptoms have lived into their 30’s and 40’s. Very severe cases may not live beyond infancy.[1][6][7]
Last updated: 3/13/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of retinal pigmentation 0007703
Infantile spasms 0012469
Intellectual disability, moderate
IQ between 34 and 49
0002342
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Moderate global developmental delay 0011343
Pachygyria
Fewer and broader ridges in brain
0001302
Partial agenesis of the corpus callosum 0001338
Polymicrogyria
More grooves in brain
0002126
Severe global developmental delay 0011344
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Bifid ribs
Cleft ribs
Split ribs
[ more ] 		0000892
Block vertebrae 0003305
Butterfly vertebrae 0003316
EEG abnormality 0002353
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Microphthalmia
Abnormally small eyeball
0000568
Missing ribs
Absent ribs
Decreased rib number
[ more ] 		0000921
Muscular hypotonia
Low or weak muscle tone
0001252
Prominence of the premaxilla
Anterior position of the premaxilla
Anterior position of the primary palate bone
Prominence of the primary palate bone
[ more ] 		0010759
Protruding ear
Prominent ear
Prominent ears
[ more ] 		0000411
Rib fusion
Fused ribs
0000902
Scoliosis 0002650
Short philtrum 0000322
Sparse lateral eyebrow
Limited hair on end of eyebrow
0005338
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Supernumerary ribs
Extra ribs
0005815
Ventriculomegaly 0002119
5%-29% of people have these symptoms
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] 		0001000
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Constipation 0002019
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Feeding difficulties in infancy 0008872
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Hepatoblastoma 0002884
Hiatus hernia
Stomach hernia
0002036
Hip dysplasia 0001385
Intestinal polyposis 0200008
Malabsorption
Intestinal malabsorption
0002024
Multiple lipomas
Multiple fatty lumps
0001012
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy 0000648
Optic nerve coloboma 0000588
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] 		0001357
Precocious puberty
Early onset of puberty
Early puberty
[ more ] 		0000826
Retinal detachment
Detached retina
0000541
Small hand
Disproportionately small hands
0200055
Percent of people who have these symptoms is not available through HPO
Abnormality of the skin 0000951
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Arnold-Chiari malformation 0002308
Carcinoma 0030731
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cavum septum pellucidum 0002389
Chorioretinal lacunae 0007858
Choroid plexus cyst 0002190
Dandy-Walker malformation 0001305
Delayed CNS myelination 0002188
Dilated third ventricle 0007082
Dilation of lateral ventricles 0006956
Epileptic spasm 0011097
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Gray matter heterotopia 0002282
Hemangioma
Strawberry mark
0001028
Hemivertebrae
Missing part of vertebrae
0002937
Intellectual disability, profound
IQ less than 20
0002187
Lipoma
Fatty lump
Noncancerous fatty lump
[ more ] 		0012032
Metastatic angiosarcoma 0200059
Postnatal growth retardation
Growth delay as children
0008897
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Recurrent pneumonia 0006532
Skin tags 0010609
Spina bifida 0002414
Teratoma 0009792
X-linked dominant inheritance 0001423
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes microcephaly-chorioretinopathy with or without lymphedema (in this disorder, the lacunae are peripheral and the microcephaly is significant ; girls with Aicardi syndrome typically do not have microcephaly), oculocerebrocutaneous syndrome, neuronal migration disorders and numerous syndromes that present with one or more of the features characteristic for Aicardi syndrome.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Aicardi syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Aicardi syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Aicardi syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Sunderkrishnan R. Aicardi Syndrome. Medscape Reference. August, 2018; http://emedicine.medscape.com/article/941426-overview.
  2. Aicardi syndrome. Genetics Home Reference. Junio, 2010; http://ghr.nlm.nih.gov/condition/aicardi-syndrome.
  3. Aicardi Syndrome Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Aicardi-Syndrome-Information-Page#disorders-r1.
  4. Sutton VR & Van den Veyver IB. Aicardi Syndrome. GeneReviews. November 2014; https://www.ncbi.nlm.nih.gov/books/NBK1381/.
  5. Roldan S. Epileptic encephalopathies in infancy. How do we treat them? Does the aetiology influence the response to treatment?. Rev Neurol. May 17, 2017; 64(3):71-75. https://www.ncbi.nlm.nih.gov/pubmed/28524224.
  6. Tuft M, Østby Y, Nakken KO & Lund C. Aicardi syndrome and cognitive abilities: A report of five cases. Epilepsy Behav. August, 2017; 73:161-165. https://www.ncbi.nlm.nih.gov/pubmed/28641168.
  7. Aicardi syndrome outcomes. Aicardi Syndrome Foundation. https://aicardisyndromefoundation.org/aicardi-syndrome/incidence-prevalence-and-survival/.