Disease Information for Aicardi syndrome

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Clinical Manifestations
Signs & Symptoms
Head Lag Infant Sign
Neck weakness/head nodding
Head Neck Floppy Infant Hypotonia Sign
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Chorioretinal Lacunae
Corpus callosum defect/agenesis
Infantile muscular spasms/Hypsarrhythmia
Microcephaly/oligophrenia
Neonatal Hypotonia/Floppy Baby Syndrome
Rib anomalies/Hypoplastic/deformed
Spinal anomaly, congenital
Vertebral anomalies
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 3p21
Pathophysiology/Gene locus chromosome 3
Pathophysiology/Gene locus Chromosome 3p
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/X-Linked dominant inheritance (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
AIC, AIC Aicardi syndrome, AICARDI SYNDROME, Aicardi's syndrome, Aicardi's syndrome (disorder), 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, CORPUS CALLOSUM AGENESIS OF WITH CHORIORETINAL ABNORMALITY, Microphthalmia seizure hypsarrhythmia syndrome, salaam attack(s), Synonym/Aicardi-Goutieres synd
Definition

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.

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External Links Related to Aicardi syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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