{"orpha":2518,"name":"Autosomal recessive chorioretinopathy-microcephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome"],"definition":"A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2518/","orphanet_url":"https://www.orpha.net/en/disease/detail/2518","names":{"fr":{"name":"Syndrome de choriorétinopathie-microcéphalie autosomique récessive","synonyms":["Syndrome de choriorétinopathie-microcéphalie-déficience intellectuelle autosomique récessive"],"definition":"Maladie neuro-ophtalmique rare caractérisée par une microcéphalie sévère d'apparition prénatale (avec une fontanelle antérieure diminuée et une crête suturale), un retard de croissance, un retard global de développement et une déficience intellectuelle (allant de légère à profonde), une dysmorphie faciale (front fuyant, micro/rétrognathie, oreilles décollées) et des déficiences visuelles (y compris microphtalmie à anophtalmie, rétinopathie généralisée ou lésions rétiniennes multiples à l'emporte-pièce, plis rétiniens avec décollement de la rétine, hypoplasie du nerf optique, strabisme, nystagmus). L'IRM cérébrale peut mettre en évidence une réduction de la taille du cortex, des hémisphères cérébraux, du corps calleux, une pachygyrie, un schéma simplifié ou normal des gyri. Les autres caractéristiques associées sont l'épilepsie et un déficit neurologique."},"de":{"name":"Autosomal-rezessive Mikrozephalie mit Chorioretinopathie","synonyms":["Autosomal-rezessive Chorioretinopathie-Mikrozephalie-Intelligenzminderung-Syndrom"]},"es":{"name":"Síndrome de coriorretinopatía-microcefalia autosómico recesivo","synonyms":["Síndrome de coriorretinopatía-microcefalia-discapacidad intelectual autosómico recesivo"],"definition":"Es una enfermedad neuro-oftalmológica poco frecuente caracterizada por microcefalia grave de inicio prenatal (con fontanela anterior reducida y suturas con reborde), retraso del crecimiento, retraso global del desarrollo y discapacidad intelectual (de leve a profunda), características dismórficas (frente inclinada, micro/ retrognacia, orejas prominentes) y deficiencias visuales (que incluyen de microftalmia a anoftalmia, retinopatía generalizada o lesiones retinianas múltiples con bordes definidos, pliegues retinianos con desprendimiento de retina, hipoplasia del nervio óptico, estrabismo, nistagmo). La resonancia magnética cerebral puede mostrar reducción del tamaño cortical, de los hemisferios cerebrales y del cuerpo calloso, paquigiria, patrón giral simplificado o normal. Otras características incluyen epilepsia y deficiencias neurológicas."},"it":{"name":"Sindrome corioretinopatia e microcefalia autosomica recessiva","synonyms":["Sindrome corioretinopatia-microcefalia-disabilità intellettiva autosomica recessiva"],"definition":"La sindrome autosomica recessiva che associa la corioretinopatia e la microcefalia è una malattia neuro-oculare rara, caratterizzata da microcefalia grave ad esordio prenatale (con fontanella anteriore molto piccola e cresta lungo le suture), ritardo della crescita, ritardo dello sviluppo globale, disabilità intellettiva (da lieve a molto grave), dismorfismi (fronte sfuggente, micro/retrognazia, orecchie prominenti) e compromissione della vista (dalla microftalmia all'anoftalmia, retinopatia generalizzata o lesioni retiniche multiple simili a punzonature, pieghe retiniche con distacco della retina, ipoplasia del nervo ottico, strabismo, nistagmo). La RMN del cervello evidenzia una riduzione dello spessore della corteccia, delle dimensioni degli emisferi cerebrali e del corpo calloso, pachigiria e semplificazione delle circonvoluzioni, oppure un aspetto normale. Altri segni clinici comprendono l'epilessia e i deficit neurologici."},"nl":{"name":"Autosomaal recessief chorioretinopathie - microcefalie-syndroom","synonyms":["Autosomaal recessief chorioretinopathie - microcefalie - intellectuele achterstand-syndroom"],"definition":"Een zeldzame neuro-oftalmologische ziekte, gekarakteriseerd door ernstige microcefalie met prenatale aanvang (met klein voorste fontanel en verdikte schedelnaden), groeiretardatie, algehele ontwikkelingsachterstand en intellectuele achterstand (gaande van mild tot diepgaand), dysmorfe kenmerken (hellend voorhoofd, micro-/retrognathie, prominente oren) en visuele stoornissen (waaronder microftalmie tot anoftalmie, gegeneraliseerde retinopathie met multipele, ronde en scherp begrensde retinale laesies, retinale plooien met netvliesloslating, hypoplasie van oogzenuw, strabisme, nystagmus). MRI van de hersenen toont mogelijk gereduceerde omvang van hersenschors, cerebrale hemisferen en corpus callosum, pachygyrie, en een vereenvoudigd of normaal gyraal patroon. Andere geassocieerde kenmerken zijn onder meer epilepsie en neurologische defecten."},"pt":{"name":"Síndrome de coriorretinopatia-microcefalia autossómica recessiva","synonyms":["Síndrome pseudo-toxoplasmose"]},"pl":{"name":"Autosomalnie recesywna chorioretinopatia - małogłowie","synonyms":["Zespół toksoplazmozy rzekomej"]},"cs":{"name":"Syndrom zahrnující autozomálně recesivní chorioretinopatii a mikrocefalii","synonyms":["Syndrom pseudotoxoplazmózy"]},"uk":{"name":"Аутосомно-рецесивний синдром хоріоретинопатії-мікроцефалії","synonyms":["Аутосомно-рецесивний синдром хоріоретинопатії-мікроцефалії-інтелектуальної недостатності"],"definition":"A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits."},"zh":{"name":"常染色体隐性遗传脉络膜视网膜病变-小头畸形综合征","synonyms":["常染色体隐性遗传脉络膜视网膜病变-小头畸形综合征"]},"tr":{"name":"Otozomal resesif korioretinopati-mikrosefali sendromu","synonyms":["Otozomal çekinik koriyoretinopati-mikrosefali-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"251270","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616171","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616335","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1640393314"},{"source":"UMLS","code":"C4749272","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PLK4","name":"polo like kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27650967[PMID]","hgnc":"11397","ensembl":"ENSG00000142731","omim":"605031","loci":["4q28.1"]},{"symbol":"TUBGCP4","name":"tubulin gamma complex component 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25817018[PMID]","hgnc":"16691","ensembl":"ENSG00000137822","omim":"609610","loci":["15q15.3"]},{"symbol":"TUBGCP6","name":"tubulin gamma complex component 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22279524[PMID]","hgnc":"18127","ensembl":"ENSG00000128159","omim":"610053","loci":["22q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[],"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:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}