{"orpha":50,"name":"Aicardi syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Agenesis of corpus callosum with chorioretinal abnormality"],"definition":"A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50/","orphanet_url":"https://www.orpha.net/en/disease/detail/50","names":{"fr":{"name":"Syndrome d'Aicardi","synonyms":["Syndrome d'agénésie du corps calleux-anomalie choriorétinienne"],"definition":"Maladie rare du développement du système nerveux caractérisée par la triade classique d'agénésie du corps calleux (totale ou partielle), de lacunes choriorétiniennes centrales et de spasmes infantiles, touchant presque exclusivement les femmes."},"de":{"name":"Aicardi-Syndrom","synonyms":["Balkenagenesie mit chorioretinaler Anomalie"],"definition":"Eine seltene neurologische Entwicklungsstörung, die durch die klassische Trias aus Agenesie des Corpus callosum (ganz oder teilweise), zentralen chorioretinalen Lakunen und infantilen Spasmen gekennzeichnet ist und fast ausschließlich Mädchen betrifft."},"es":{"name":"Síndrome de Aicardi","definition":"Es un trastorno poco frecuente del neurodesarrollo caracterizado por la tríada clásica de agenesia del cuerpo calloso (total o parcial), lagunas coriorretinianas centrales y espasmos infantiles, que afecta casi exclusivamente a mujeres."},"it":{"name":"Sindrome di Aicardi","synonyms":["Agenesia del corpo calloso - anomalie corioretiniche"],"definition":"La sindrome di Aicardi è una malattia rara dello sviluppo neurologico, caratterizzata dalla triade agenesia del corpo calloso (totale o parziale), lacune corioretiniche centrali e spasmi infantili. La malattia colpisce quasi esclusivamente le femmine."},"nl":{"name":"Syndroom van Aicardi","synonyms":["Agenesie van corpus callosum met chorioretinale anomalie"],"definition":"Een zeldzame, neurologische ontwikkelingsstoornis die nagenoeg enkel vrouwen treft en gekarakteriseerd wordt door de klassieke triade van agenesie van corpus callosum (totaal of partieel), centrale chorioretinale lacunes en infantiele spasmen."},"pt":{"name":"Síndrome Aicardi","synonyms":["Agenesia do corpo caloso com anomalia corio-retiniana"]},"pl":{"name":"Zespół Aicardi'ego","synonyms":["Agnezja ciała modzelowatego z zaburzeniami naczyniówkowo-siatkówkowymi"],"definition":"Rzadkie zaburzenie neurorozwojowe charakteryzujące się klasyczną triadą obejmującą agenezję ciała modzelowatego (całkowitą lub częściową), obecność centralnie położonych lakun w naczyniówce i siatkówce oraz drgawki niemowlęce, które występują prawie wyłącznie u kobiet."},"cs":{"name":"Aicardiho syndrom","synonyms":["Ageneze corpus callosum s chorioretinálními abnormalitami"]},"uk":{"name":"Синдром Айкарді","synonyms":["Генезис мозолистого тіла при хоріоретинальній аномалії"],"definition":"A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females."},"zh":{"name":"Aicardi综合征","synonyms":["胼胝体发育不良伴脉络膜视网膜畸形"]},"tr":{"name":"Aicardi sendromu","synonyms":["Koryoretinal anormallik ile seyreden korpus kallozumun agenezisi"]}},"xrefs":[{"source":"OMIM","code":"304050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2057245946"},{"source":"MONDO","code":"0010568","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058540","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175713","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5764","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10054935","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":716299,"name":"Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.07,"area":"Netherlands","status":"Validated","source":"18182643[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.95,"area":"United States","status":"Validated","source":"18182643[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"United States","status":"Not yet validated","source":"18182643[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000892","label":"Bifid ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003305","label":"Block vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003316","label":"Butterfly vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010759","label":"Premaxillary Prominence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005815","label":"Supernumerary ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002884","label":"Hepatoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null}]}}