Diseases & Conditions
Aicardi Syndrome
Synonyms of Aicardi Syndrome
General Discussion
Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally. Chorioretinal lacunae are small holes in the retina (back part of the eye). These are only visible to a doctor using a device to look into the back of the eye. It is very unusual to have Aicardi syndrome without having chorioretinal lacunae. The seizures can be of different types. Infants with Aicardi syndrome usually have a type of seizures known as ?infantile spasms?. These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These look different from the more common type of seizures known as ?generalized tonic-clonic? seizures. Generalized tonic-clonic seizures are rhythmic jerking of arms and legs. People often black out during this type of seizure. Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and mental retardation.
Organizations related to Aicardi Syndrome
For a Complete Report
- Agenesis of Corpus Callosum With Chorioretinitis Abnormality
- Agenesis of Corpus Callosum With Infantile Spasms And Ocular Anomalies
- Callosal Agenesis and Ocular Abnormalities
- Chorioretinal Anomalies with ACC
- Corpus Callosum, Agenesis of and Chorioretinal Abnormality
Disorder Subdivisions
General Discussion
Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally. Chorioretinal lacunae are small holes in the retina (back part of the eye). These are only visible to a doctor using a device to look into the back of the eye. It is very unusual to have Aicardi syndrome without having chorioretinal lacunae. The seizures can be of different types. Infants with Aicardi syndrome usually have a type of seizures known as ?infantile spasms?. These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These look different from the more common type of seizures known as ?generalized tonic-clonic? seizures. Generalized tonic-clonic seizures are rhythmic jerking of arms and legs. People often black out during this type of seizure. Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and mental retardation.
Organizations related to Aicardi Syndrome
- Aicardi Syndrome Awareness and Support Group
29 Delavan Avenue
Ontario None M5P 1T2
Phone #: (41-6) -481-4095
800 #: --
e-mail: asasn@sympatico.ca
Home page: http://www.aicardisyndrome.org/ - Aicardi Syndrome Foundation
PO Box 3202
St. Charles IL 60174
Phone #: N/A
800 #: 800-374-8518
e-mail: foundation@aicardisyndrome.org
Home page: http://www.aicardisyndrome.org - Aicardi Syndrome Newsletter, Inc.
1510 Polo Fields Ct
Louisville KY 40245
Phone #: 502-244-9152
800 #: --
e-mail: AICNews@aol.com
Home page: http://www.aicardisyndrome.org - Blind Children's Fund
311 W. Broadway
Mt. Pleasant MI 48858
Phone #: 989-779-9966
800 #: --
e-mail: bcf@blindchildrensfund.org
Home page: http://www.blindchildrensfund.org - MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/ - Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org - March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com - National Association for Visually Handicapped
22 West 21st Street
New York NY 10010
Phone #: 212-889-3141
800 #: --
e-mail: staff@navh.org
Home page: http://www.navh.org - National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/ - The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
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