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Disease Profile
Aicardi syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
Q04.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
AIC; Corpus callosum, agenesis of, with chorioretinal abnormality
Categories
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases;
Summary
Aicardi
- 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 (
Symptoms
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormality of retinal pigmentation | 0007703 | ||
Infantile spasms | 0012469 | ||
IQ between 34 and 49
|
0002342 | ||
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Moderate global |
0011343 | ||
Pachygyria |
Fewer and broader ridges in brain
|
0001302 | |
Partial agenesis of the |
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 | ||
0002353 | |||
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 | |
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 |
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 | |
0002650 | |||
Short philtrum | 0000322 | ||
Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 | |
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 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 | |
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 | ||
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 |
0002188 | ||
Dilated third ventricle | 0007082 | ||
Dilation of lateral ventricles |
Related diseasesRelated 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.
OrganizationsSupport 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
Learn moreThese 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
In-Depth Information
References
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