{"orpha":36,"name":"Acrocallosal syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ACS"],"definition":"A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36/","orphanet_url":"https://www.orpha.net/en/disease/detail/36","names":{"fr":{"name":"Syndrome acrocalleux","synonyms":["ACS"],"definition":"Syndrome polymalformatif rare caractérisé par une agénésie du corps calleux (CC), des anomalies distales des membres, des anomalies craniofaciales mineures et un déficit intellectuel."},"de":{"name":"Akrokallosal-Syndrom","synonyms":["ACS"],"definition":"Ein seltenes Fehlbildungssyndrom, das durch eine Agenesie des Corpus callosum (CC), distale Anomalien der Gliedmaßen, kleinere kraniofaziale Anomalien und Intelligenzminderung gekennzeichnet ist."},"es":{"name":"Síndrome acrocalloso","definition":"Es un síndrome polimalformativo poco frecuente caracterizado por agenesia del cuerpo calloso (CC), anomalías distales de las extremidades, anomalías craneofaciales menores y discapacidad intelectual."},"it":{"name":"Sindrome acrocallosa","synonyms":["ACS"],"definition":"La sindrome acrocallosa (ACS) è una malattia polimalformativa rara, caratterizzata da agenesia del corpo calloso (CC), anomalie della porzione distale degli arti, lievi anomalie craniofacciali e disabilità intellettiva."},"nl":{"name":"Acrocallosaal syndroom","synonyms":["ACS"],"definition":"Een zeldzaam polymalformatief syndroom, gekenmerkt door agenesie van corpus callosum, distale anomalieën van ledematen, kleine craniofaciale anomalieën, en intellectuele achterstand."},"pt":{"name":"Síndrome acrocalosal","definition":"Síndrome polimalformativa rara caracterizada por agenesia do corpo caloso (CC), anomalias distais dos membros, anomalias craniofaciais menores e perturbação do desenvolvimento intelectual."},"pl":{"name":"Zespół kończyny-ciało modzelowate","synonyms":["ACS"]},"cs":{"name":"Akrokalózní syndrom","synonyms":["ACS"]},"uk":{"name":"Акрокаллозальний синдром","synonyms":["ACS"],"definition":"A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability."},"zh":{"name":"肢端胼胝体综合征","synonyms":["ACS"]},"tr":{"name":"Akrokallosal sendrom","synonyms":["ACS"]}},"xrefs":[{"source":"OMIM","code":"200990","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1286493807"},{"source":"MONDO","code":"0008708","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055673","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796147","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5721","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083865","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital 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in","status":"Assessed","source":"23633388[PMID]_12414818[PMID]","hgnc":"4319","ensembl":"ENSG00000106571","omim":"165240","loci":["7p14.1"]},{"symbol":"KIF7","name":"kinesin family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21552264[PMID]_23142271[PMID]","hgnc":"30497","ensembl":"ENSG00000166813","omim":"611254","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"22696705[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22696705[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping 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(29-5%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Occasional (29-5%)","criteria":null}]}}