Aicardi syndrome is a 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: 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) , and 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: Developmental delay, Intellectual disability that ranges from very mild to severe, Characteristic facial features, Other brain malformations such as a very small head (microcephaly) , and Other eye defects The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change 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. 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.
Summary
Aicardi syndrome is a 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: 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) , and 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: Developmental delay, Intellectual disability that ranges from very mild to severe, Characteristic facial features, Other brain malformations such as a very small head (microcephaly) , and Other eye defects The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change 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. 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.Aicardi syndrome is a 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: 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) , and 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: Developmental delay, Intellectual disability that ranges from very mild to severe, Characteristic facial features, Other brain malformations such as a very small head (microcephaly) , and Other eye defects The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change 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. 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.
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Resource(s) for Medical Professionals and Scientists on This Disease:
Orphanetprovides GARD with information for this disease.
GeneReviewsprovides scientific information on genetic diseases, including diagnosis, treatment, and genetic counseling.
About Aicardi syndrome
Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 5,000 people in the U.S. have thisdisease.
Symptoms:May start to appear as a Newborn.
Cause:This disease is caused by a change in the genetic material (DNA).
Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
Symptoms of this disease may start to appear as a Newborn.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear as a Newborn.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.
The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
49 Symptoms
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Body Systems
Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Abnormality of retinal pigmentation
Frequency
Uncommon
Very frequent
Very frequent
Always
Synonym
Abnormal retinal pigmentation; Abnormality of retinal pigment epithelium; Abnormality of RPE; Retinal pigmentary anomaly
Abnormal retinal pigmentation; Abnormality of retinal pigment epithelium; Abnormality of RPE; Retinal pigmentary anomaly
49 Symptoms
Causes
What Causes This Disease?
Genetic Mutations
Aicardi syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team. This tool from the Surgeon General can help you collect your family health history.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current data, this disease can be inherited in the following pattern(s):
X-Linked
X-linked inheritance means the genetic mutation is located on the X chromosome, one of the sex chromosomes. The male sex chromosome pair consists of one X and one Y chromosome (XY). The female sex chromosome pair consists of two X chromosomes (XX). Because males have just one X chromosome, it takes only one copy of the mutated gene to cause the disease. Females that have one copy of the mutated gene may have symptoms similar to those experienced by affected males, but usually have less severe symptoms, or no symptoms at all.
Female parents with one X-linked mutated gene have a 50% chance of passing on the mutation to each of their biological children. Male parents with an X-linked mutated gene will pass on the mutation to all their female children but cannot pass the mutation on to their male children.
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
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What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) are used to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
Human Phenotype Ontology (HPO) provides standard terminology that was used by Orphanet and OMIM to represent a disease's phenotypic features. HPO provides information on describing these clinical features.
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