1. Aicardi Syndrome Foundation Information about the disease, a medical survey, where to get help, publications and a chat room for Category Health Conditions and Diseases aicardi syndrome......aicardi syndrome Foundation Logo, Welcome to the aicardi syndrome Family Website. Welcometo the aicardi syndrome website. We are glad you have found us! http://www.aicardisyndrome.org/

Welcome to the Aicardi Syndrome Family Website Welcome What is Aicardi Syndrome? Support and Contacts Information from Parents ... Resources Welcome to the Aicardi Syndrome website. We are glad you have found us! We hope that this site can provide information and comfort to families and friends of girls diagnosed with Aicardi Syndrome. If you are here because of a newly diagnosed child, please let us know who you are. Visit our support and contacts page to sign up for our newsletter, join our email support group, and contact your regional coordinator. These resources can hopefully answer some of the questions you may have, as well as provide support. We are always open to suggestions about the site. Please email your ideas (and any technical problems) to web@aicardisyndrome.org or use our feedback form. Note: The chat room link has been moved to "support and contacts". Please send website suggestions and technical problem reports to web@aicardisyndrome.org or fill out a feedback form.

2. NINDS Aicardi Syndrome Information Page Information sheet compiled by National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/health_and_medical/disorders/aicardi.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Aicardi Syndrome Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Aicardi Syndrome Information Page Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Aicardi Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Aicardi Syndrome? Aicardi syndrome is a rare disorder characterized by the partial or complete agenesis (absence) of the corpus callosum (the structure that links the 2 hemispheres of the brain), infantile spasms (a form of childhood seizure), mental retardation, and an ocular (eye) abnormality called lacunae (lesions) of the retina of the eye. Aicardi syndrome may be associated with other brain defects such as microcephaly (small brain) or porencephalic cysts (cerebrospinal fluid-filled cavities or gaps in the brain). Onset of Aicardi syndrome generally begins between the ages of 3 and 5 months. The disorder affects only females. Is there any treatment?

3. The Contact A Family Directory - AICARDI SYNDROME aicardi syndrome is a very rare neurological condition due to a congenital abnormality of brain development. http://www.cafamily.org.uk/Direct/a28.html

printer friendly AICARDI SYNDROME home more about us in your area conditions information ... how you can help search this site Aicardi syndrome is a very rare neurological condition due to a congenital abnormality of brain development. The characteristic features consist of under development or absence of the development (agenesis) of a brain structure known as the corpus callosum, a form of epilepsy (infantile spasms) and an abnormality to the structure and appearance of the retina of the eyes. It is an example of one of the syndromic causes of agenesisof the corpus callosum . In Aicardi syndrome, in addition to the structural abnormality of the corpus callosum, other structures within the brain can also be abnormal. This can result in a variety of types of brain cyst and/or abnormal structure within areas of both grey or white matter of the brain. Learning Disability is a constant feature and varies from moderate to the more commonly seen severe picture. The associated epilepsy classically takes the form of "infantile spasms" or is "spasm-like". Other types of epileptic fit may be seen. The epilepsy usually occurs by two months of age, it is often difficult and remains difficult to control. Investigating it with electroencephalogramstudies may reveal a pattern characteristic of these spasms (hypsarrhythmia). This form of epilepsy is sometimes referred to as

4. AICARDI SYNDROME Pediatric Database (PEDBASE); Discipline GEN; Last Updated 6/12/94 AICARDISYNDROME. DEFINITION INTERNET LINKS aicardi syndrome Foundation. http://www.icondata.com/health/pedbase/files/AICARDIS.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/12/94 AICARDI SYNDROME DEFINITION: An x-linked recessive disorder characterized by neurological and ophthalmologic manifestations and agenesis of the corpus callosum. EPIDEMIOLOGY: incidence: rare (about 100 cases worldwide) age of onset: first few months of life (myoclonic seizures) risk factors: familial - ? x-linked dominant with lethality in hemizygous males chrom.#: Xp22 gene: ? F >> M (only 1 male described) PATHOGENESIS: 1. Genetic Defect gene defect -> insult prior to 16 weeks gestation CLINICAL FEATURES: 1. Neurological Manifestations myoclonic seizures (infantile flexor spasms) psychomotor retardation severe mental retardation others: hypotonia, microcephaly, plagiocephaly 2. Ophthalmologic Manifestations pathognomonic: lacunar chorioretinopathy - ovoid or circular unilateral or bilateral microphthalmia persistent pupillary membrane colobomas of optic nerve and choroid blindness 3. Other Manifestations 1. Musculoskeletal hemivertebrae, fused vertebrae, scoliosis, rib anomalies 2. Neoplasms

5. Aicardi Syndrome A list of synonyms of aicardi syndrome, a summary and the major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome015.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Aicardi syndrome Synonyms chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome corpus callosum agenesis-chorioretinal abnormality syndrome corpus callosum agenesis-chorioretinopathy-infantile spasms syndrome corpus callosum agenesis-ocular anomalies-salaam seizures syndrome Summary A syndrome of infantile spasms, typical bowing of the head (salaam seizures), chorioretinopathy, retarded mental and motor development, agenesis of the corpus callosum, and costovertebral anomalies. Major Features Head and neck: Skull abnormalities include frontal bossing, occipital flattening, and plagiocephaly. Eyes: Chorioretinal lacunae and, less frequently, unilateral microphthalmia, eyelid twitching, optic nerve coloboma, nystagmus, and retinal detachment. Mouth and oral structures: Occasional cleft lip and palate. Thorax: Absent or abnormal ribs. Extremities: Unilateral hip dysplasia may occur. Spine: Vertebral abnormalities include hemivertebrae and scoliosis. Muscles: Hypotonia.

6. MEDLINEplus Medical Encyclopedia: Aicardi Syndrome aicardi syndrome a list of alternate names, a definition with a look at the causes, incidence and risk factors. http://www.nlm.nih.gov/medlineplus/ency/article/001664.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Aicardi syndrome Contents of this page: Illustrations Definition Causes, incidence, and risk factors Symptoms ... Calling your health care provider Illustrations Corpus callosum of the brain Definition Return to top Aicardi syndrome is a rare genetic disorder characterized by infantile spasms (jerking), absence of the corpus callosum (the connection between the two hemispheres of the brain), mental retardation, and lesions of the retina of the eye or optic nerve. Causes, incidence, and risk factors Return to top The cause of Aicardi syndrome is unknown at this time, but is presumed to be a genetic disorder carried on the X-chromosome in some cases and a random, sporadic mutation in others. There are less than 500 cases of Aicardi worldwide. Symptoms Return to top Children are most commonly diagnosed with Aicardi Syndrome between the ages of three months and five months, if they meet the following criteria: Female sex (or XXY genotype male) Retinal lacunae lesions of the retina Seizures typically beginning as infantile spasms, a type of epileptic disorder in infants

7. EMedicine - Aicardi Syndrome : Article By Marc P Difazio, MD additional 7 patients were described in 1969, and in 1972 Dennis and Bower established the aicardi syndrome designation. http://www.emedicine.com/ped/topic58.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Aicardi Syndrome Last Updated: January 7, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: callosal agenesis, ocular abnormalities, syndrome of spasm-in-flexion AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Marc P Difazio, MD , Chief, Child and Adolescent Neurology Clinic, Assistant Professor, Department of Neurology, Section of Child and Adolescent Neurology, Walter Reed Army Medical Center Coauthor(s): Ronald G Davis, MD , Assistant Professor, Department of Neurology, Division of Child and Adolescent Neurology, Children's Hospital of Boston and Harvard University Medical School Marc P Difazio, MD, is a member of the following medical societies: Alpha Omega Alpha , American Academy of Neurology, and Child Neurology Society Editor(s): James Bowman, MD

8. Aicardi Syndrome Foundation aicardi syndrome Foundation Logo, aicardi syndrome. By the aicardi syndromeNewsletter, A publication of the aicardi syndrome Foundation, Inc. http://www.aicardisyndrome.org/index.php?pname=whatis

9. NINDS - News And Events Health. Sorry! There are no press releases for aicardi syndrome. Useyour browser's Back button to return to your previous activity. http://www.ninds.nih.gov/health_and_medical/news.htm?url=/health_and_medical/dis

10. Agenesis Of The Corpus Callosum/Aicardi Syndrome -CORPAL A support group for the families and carers of those with Agenesis of the Corpus Callosum, and aicardi syndrome. Information, reports and newsletters. http://freespace.virgin.net/jan.webster/index.htm

A Support Group for the families and carers of those with Agenesis of the Corpus Callosum, and Aicardi Syndrome Registered Charity Number : 1086019 Affiliated to Contact A Family Last updated 02/11/02 By Janet Webster Animated Gifs by and Although great care has been taken in the compilation and preparation of the enclosed details to ensure accuracy, CORPAL cannot accept responsibility for any errors or omissions. Any medical information provided is for information/education purposes, you should obtain further information from your medical practitioner. HI

11. Aicardi Syndrome Related Search Search for books about aicardi syndrome. aicardi syndrome. Begin your search for. aicardi syndrome http://www.book-summary.com/aicardi-syndrome.html

Aicardi Syndrome Begin your search for Aicardi Syndrome Aicardi Syndrome search Top Books Search for other books All Products Books Popular Music Classical Music Video DVD More... More... The Stendhal Syndrome More... Asperger's Syndrome Video More... The China Syndrome More... Omega Syndrome More... privacy Free Site Templates About Aicardi Syndrome Touching the derivation of the name Aicardi Syndrome, I confess myself, with sorrow, equally at fault. Among a multitude of opinions upon this delicate point- some acute, some learned, some sufficiently the reverse I am able to select nothing which ought to be considered satisfactory. Modified text originally written by Edgar Allan Poe.

12. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal...... aicardi syndrome (not on MeSH) aicardi syndrome Foundation (US);aicardi syndrome information - NINDS/NIH (US); aicardi syndrome http://www.mic.ki.se/Diseases/c16.html

search help staff Congenital, Hereditary, and Neonatal Diseases and Abnormalities (including Pediatrics) Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search PubMed at NCBI/NLM The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping P Murphy Human Disease Maps J Frezal ] - GENATLAS (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com Prenatal Diagnosis GR DeVore ] - Fetal.Com Prenatal Diagnosis [images; EC Klatt PEDIATRICS Harriet Lane WWW Links ('Pediatric Points of Interest') CU Lehmann ] - Johns Hopkins U. Child and Teen Health Topics - Medline Plus , NLM(US) Acute Pediatric Care - Univ of Minnesota (US) Children's Hospital Handbook, 1999

13. Aicardi Syndrome / The Family Village Library Library A B. aicardi syndrome. Who to Contact. Al and Cindy Meo AicardiSyndrome Foundation PO Box 3202 St. Charles, IL 60174 (800 http://www.familyvillage.wisc.edu/lib_aica.htm

Aicardi Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Aicardi Syndrome" Who to Contact Al and Cindy Meo Aicardi Syndrome Foundation P.O. Box 3202 St. Charles, IL 60174 E-mail: aicardi@aol.com Website: http://www.aicardisyndrome.org/ This Foundation provides a chat room and information network on Aicardi Syndrome for families and professionals. Aicardi Syndrome Newsletter, Inc. Denise Parsons 1510 Polo Fields Court Louisville, Kentucky 40245 U.S.A. E-mail: AICNews@aol.com The Aicardi Syndrome Newsletter provides information and support to families who have a child with Aicardi syndrome and acts as an information gathering and sharing resource for professional and health care personnel. The Newsletter provides a network of information, communication and support to families, strengthens and empowers families in becoming advocates for their child, and gathers current research articles and findings regarding Aicardi syndrome and other related topics for distribution to member families. Where to Go to Chat with Others Aicardisyndrome Support for Aicardi families Aicardi! Chat Room

14. Aicardi Syndrome Foundation aicardi syndrome AN INFORMATION NETWORK FOR FAMILIES AND PROFESSIONALS By the AicardiSyndrome Newsletter, A publication of the aicardi syndrome Foundation, Inc http://www.aicardi.com/Aicardi.htm

15. Aicardi Syndrome Foundation aicardi syndrome Foundation* New Address to be given soon. USA. Phone1800-374-8518. Denise Parsons aicardi syndrome Newsletter, Inc. http://www.aicardi.com/info.htm

16. Aicardi Syndrome aicardi syndrome is a rare disorder characterized by the agenesis of the corpuscallosum, infantile spasms, mental retardation, and lacunae of the retina. http://healthlink.mcw.edu/article/921381662.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Aicardi Syndrome Aicardi syndrome is a rare disorder characterized by the partial or complete agenesis (absence) of the corpus callosum (the structure that links the 2 hemispheres of the brain), infantile spasms (a form of childhood seizure), mental retardation, and an ocular (eye) abnormality called lacunae (lesions) of the retina of the eye. Aicardi syndrome may be associated with other brain defects such as microcephaly (small brain) or porencephalic cysts (cerebrospinal fluid-filled cavities or gaps in the brain). Onset of Aicardi syndrome generally begins between the ages of 3 and 5 months. The disorder affects only females. Is there any treatment? There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment, which is symptomatic, generally involves management of seizures and intervention programs for mental retardation. What is the prognosis?

17. Aicardi Syndrome aicardi syndrome. aicardi syndrome Newsletter, Inc. 5115 Troy 6033. AicardiSyndrome Awareness and Support Group 29 Delavan Ave. Toronto http://www.kumc.edu/gec/support/aicardi.html

Aicardi syndrome Aicardi Syndrome Newsletter, Inc. 5115 Troy Urbana Rd Casstown, OH 45312-9711 Phone: (513) 339-6033 Contact: Denise M Raynor Fax: (513) 339-6033 Aicardi Syndrome Awareness and Support Group 29 Delavan Ave. Toronto, Ontario, Canada, M5P 1T2 Phone: (416) 481-4095 Also See: To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

18. Aicardi Syndrome - Keep Kids Healthy Conditions Main Diseases and Conditions aicardi syndrome. aicardi syndrome. Aicardisyndrome abnormalities. Resource List for aicardi syndrome Aicardi http://www.keepkidshealthy.com/welcome/conditions/aicardi.html

Bookstore Site Map Contact Us Help ... Free Web Pages! Search this site: Advanced Search Free Newsletters Main Menu Useful Tools Index of Topics Pediatric Problems New! Parenting Tips Symptom Guide Nutrition Immunizations ... Web Links Online Resources What's New Reviews New! Growth Charts Online Forums Vaccine Schedule Baby Names Guide ... Height Calculator Newsletters: Subscribe to get free news, tips and updates. Recommend Us tell a friend about us or email this page to a friend Main Diseases and Conditions Aicardi Syndrome Aicardi syndrome is a rare disorder that affects females, and whose features include partial or compete agenesis of the corpus collosum (the structure that connects to the two halves of the brain), seizures that are difficult to control with antiseizure medications, mental retardation and abnormalities of the retina in the eye (especially colobomas The kind of seizures that infants with Aicardi syndrome usually have are infantile spasms . These seizures consist of symmetric and brief clusters of spasms of the muscles of the neck, trunk or limbs. An EEG can help to diagnose if your child is having infantile spasms, because it will show a very characteristic, abnormal pattern called hypsarrhythmia. Treatment of infantile spasms can be very difficult and your child may require treatment with many different types of medications, including clonazepam, valproate, pyridoxine, and hormonal therapy with adrenocorticotropic hormone (ACTH) or corticosteroids. Agenesis of the corpus collosum can occur by itself, without seizures, mental retardation or other medical problems. These children will usually be normal without other brain or developmental abnormalities.

19. Aicardi Syndrome aicardi syndrome. I am looking for patients with aicardi syndrome forgenetic analysis. If any of you have female patients with this http://www.waisman.wisc.edu/child-neuro/seekpt-f/aicardi.html

Aicardi Syndrome I am looking for patients with Aicardi syndrome for genetic analysis. If any of you have female patients with this condition, and they are willing to donate some blood for DNA analysis, please contact me. Vinodh Narayanan, M.D. Children's Hospital of Pittsburgh Rangos Building, Rm. 7118 3705 Fifth Ave. at DeSoto St. Pittsburgh, PA, 15213 Tel: 412-692-6078 FAX: 412-692-5723 e-mail: Vinodh_Narayanan@poplar.chp.edu Go back to Child-Neuro Homepage Go back to Clinical Studies Seeking Patients page Last updated 06 October 1999

20. NINDS Aicardi Syndrome Information Page More about NINDS aicardi syndrome Information Page. Content for thispage. NINDS aicardi syndrome Information Page. Reviewed 0701-2001. http://accessible.ninds.nih.gov/health_and_medical/disorders/aicardi.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Aicardi Syndrome Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Aicardi Syndrome Information Page Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Aicardi Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Aicardi Syndrome? Aicardi syndrome is a rare disorder characterized by the partial or complete agenesis (absence) of the corpus callosum (the structure that links the 2 hemispheres of the brain), infantile spasms (a form of childhood seizure), mental retardation, and an ocular (eye) abnormality called lacunae (lesions) of the retina of the eye. Aicardi syndrome may be associated with other brain defects such as microcephaly (small brain) or porencephalic cysts (cerebrospinal fluid-filled cavities or gaps in the brain). Onset of Aicardi syndrome generally begins between the ages of 3 and 5 months. The disorder affects only females.

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