{"orpha":289,"name":"Ellis-Van Creveld syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Chondroectodermal dysplasia","Mesodermic dysplasia"],"definition":"A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289/","orphanet_url":"https://www.orpha.net/en/disease/detail/289","names":{"fr":{"name":"Syndrome d'Ellis-Van Creveld","synonyms":["Dysplasie chondroectodermique","Dysplasie mésoectodermique"],"definition":"Dysplasie chondro-ectodermique caractérisé par des côtes courtes, une polydactylie, un retard de croissance, des anomalies ectodermiques et des malformations cardiaques."},"de":{"name":"Ellis Van Creveld-Syndrom","synonyms":["Chondroektodermale Dysplasie","Mesodermale Dysplasie"],"definition":"Das Ellis-van-Crefeld-Syndrom (EVC) ist eine chondrale und ektodermale Dysplasie und gekennzeichnet durch kurze Rippen, Polydaktylie, Kleinwuchs, ektodermale Defekte und Herzfehler."},"es":{"name":"Síndrome de Ellis-Van Creveld","synonyms":["Displasia condroectodérmica","Displasia mesodérmica"],"definition":"Es una displasia condral y ectodérmica poco frecuente caracterizada por costillas cortas, polidactilia, retraso del crecimiento y defectos ectodérmicos y cardíacos."},"it":{"name":"Sindrome di Ellis-Van Creveld","synonyms":["Displasia condroectodermica","Displasia mesodermica"],"definition":"La sindrome di Ellis-van Creveld (EVC) è una displasia scheletrica ed ectodermica, caratterizzata dalla tetrade bassa statura, polidattilia postassiale, displasia ectodermica e cardiopatie congenite."},"nl":{"name":"Syndroom van Ellis-Van Creveld","synonyms":["Chondro-ectodermale dysplasie","Mesodermale dysplasie"],"definition":"Een zeldzame chondrale en ectodermale dysplasie, gekarakteriseerd door korte ribben, polydactylie, groeiretardatie, ectodermale defecten en hartdefecten."},"pt":{"name":"Síndrome Ellis Van Creveld","synonyms":["Displasia condroectodérmica"]},"pl":{"name":"Zespół Ellisa Van Crevelda","synonyms":["Dysplazja chondroektodermalna","Dysplazja mezodermalna"]},"cs":{"name":"Creveldův syndrom","synonyms":["Chondroektodermální dysplázie","Mezodermální dysplázie"]},"uk":{"name":"Синдром Елліса Ван Кревельда","synonyms":["Хондроектодермальна дисплазія","Мезодермальна дисплазія"],"definition":"A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects."},"zh":{"name":"Ellis Van Creveld综合征","synonyms":["软骨外胚层发育不良"]},"tr":{"name":"Ellis Van Creveld sendromu","synonyms":["Mezodermik displazi","Kondroektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"225500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617088","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618123","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619142","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619143","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.6","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"278346811"},{"source":"MONDO","code":"0009162","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004613","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013903","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008724","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]},{"orpha":1505,"name":"Short rib-polydactyly syndrome","classifications":[147,156,184,199]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"GLI1","name":"GLI family zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28973407[PMID]","hgnc":"4317","ensembl":"ENSG00000111087","omim":"165220","loci":["12q13.3"]},{"symbol":"DYNC2LI1","name":"dynein cytoplasmic 2 light intermediate chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26130459[PMID]","hgnc":"24595","ensembl":"ENSG00000138036","omim":"617083","loci":["2p21"]},{"symbol":"EVC","name":"EvC ciliary complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23220543[PMID]_22791528[PMID]_19744229[PMID]","hgnc":"3497","ensembl":"ENSG00000072840","omim":"604831","loci":["4p16.2"]},{"symbol":"EVC2","name":"EvC ciliary complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23220543[PMID]_22791528[PMID]_12571802[PMID]","hgnc":"19747","ensembl":"ENSG00000173040","omim":"607261","loci":["4p16.2"]},{"symbol":"PRKACA","name":"protein kinase cAMP-activated catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33058759[PMID]","hgnc":"9380","ensembl":"ENSG00000072062","omim":"601639","loci":["19p13.12"]},{"symbol":"PRKACB","name":"protein kinase cAMP-activated catalytic subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33058759[PMID]","hgnc":"9381","ensembl":"ENSG00000142875","omim":"176892","loci":["1p31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":500.0,"area":"Specific population","status":"Validated","source":"10700162[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Worldwide","status":"Not yet validated","source":"ISBN:9780313387135[OTHER]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008921","label":"Neonatal short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001241","label":"Capitate-hamate fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011065","label":"Conical incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","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:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}