{"orpha":2008,"name":"Acrocardiofacial syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ACFS","CCGE syndrome","Cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome"],"definition":"A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2008/","orphanet_url":"https://www.orpha.net/en/disease/detail/2008","names":{"fr":{"name":"Syndrome acrocardiofacial","synonyms":["ACFS","Syndrome CCGE","Syndrome de fente palatine-cardiopathie-anomalies génitales-ectrodactylie"],"definition":"Le syndrome acro-cardio-facial (SACF) est une anomalie génétique rare caractérisée par une ectrodactylie, des anomalies faciales, une fente palatine, une cardiopathie congénitale, des anomalies génitales et un déficit intellectuel."},"de":{"name":"Akro-kardio-faziales Syndrom","synonyms":["ACFS","CCGE-Syndrom","Gaumenspalte - Herzfehler - Genitalanomalien - Ektrodaktylie"],"definition":"Das Akro-kardio-faziale Syndrom (ACFS) ist eine seltene genetische Erkrankung und gekennzeichnet durch Spalthand-Spaltfuß-Malformation (SHFM), faziale Anomalien, Lippen-Gaumenspalte, angeborene Herzfehler, Genitalanomalien und intellektuelles Defizit."},"es":{"name":"Síndrome acro-cardio-facial","synonyms":["ACFS","Síndrome CCGE","Síndrome de paladar hendido-defecto cardíaco-anomalías genitales-ectrodactilia"],"definition":"Es un trastorno genético raro caracterizado por: malformación mano hendida/pie hendido (SHFM; por sus siglas en inglés), anomalías faciales, labio leporino y paladar hendido, defectos cardiacos congénitos (DCC), anomalías genitales, y discapacidad intelectual."},"it":{"name":"Palatoschisi - difetto cardiaco - anomalie dei genitali - ectrodattilia","synonyms":["Sindrome CCGE","Sindrome acro-cardio-facciale"]},"nl":{"name":"Acrocardiofaciaal syndroom","synonyms":["ACFS","CCGE-syndroom","Gespleten gehemelte - hartdefect - genitale anomalieën - ectrodactylie-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door gespleten hand/gespleten voet-malformatie (SHFM), anomalieën van aangezicht, gespleten lip/gehemelte, congenitaal hartdefect (CHD), genitale anomalieën, en intellectuele achterstand."},"pt":{"name":"Síndrome acro-cardio-facial","synonyms":["ACFS","Síndrome CCGE","Síndrome de fenda do palato-anomalia cardíaca-anomalias genitais-ectrodactilia"],"definition":"O síndrome acro-cardio-facial (ACFS) é uma patologia genética rara caracterizada por malformação mão fendida/pé fendido (SHFM), anomalias faciais, fenda do lábio/palato, doença cardíaca congénita (DCC), anomalias genitais e défice cognitivo."},"pl":{"name":"Zespół kończynowo-sercowo-twarzowy","synonyms":["ACFS","Zespół CCGE","Zespół rozszczepu podniebienia, wady serca, wad narządów płciowych i ektrodaktylii"]},"cs":{"name":"Akrokardiofaciální syndrom","synonyms":["ACFS","CCGE syndrom","Syndrom zahrnující rozštěp patra, defekt srdce, anomálie genitálu a ektrodaktylii"]},"uk":{"name":"Акрокардіофаціальний синдром","synonyms":["ACFS","Синдром CCGE","Синдром розщілини піднебіння - серцевої вади - аномалії статевих органів - ектродактилії"],"definition":"A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit."},"zh":{"name":"Acrocardiofacial综合症","synonyms":["腭裂-心脏缺陷-生殖器-缺指（趾）畸形综合症"]},"tr":{"name":"Akrokardiyofasiyal sendrom","synonyms":["ACFS","CCGE sendromu","Yarık damak-kalp defekti-genital anomaliler-ektrodaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"600460","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"976844546"},{"source":"MONDO","code":"0010890","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563936","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838121","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1167","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1894,"name":"Ectrodactyly-spina bifida-cardiopathy syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"20920258[PMID]_1746602[PMID]_15937946[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20920258[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}