{"orpha":2516,"name":"Microcephaly-cardiac defect-lung malsegmentation syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Ellis-Yale-Winter syndrome"],"definition":"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2516/","orphanet_url":"https://www.orpha.net/en/disease/detail/2516","names":{"fr":{"name":"Syndrome de microcéphalie-cardiopathie-malsegmentation pulmonaire","synonyms":["Syndrome d'Ellis-Yale-Winter"],"definition":"Le syndrome microcephalie-malformation cardiaque- malsegmentation pulmonaire est un syndrome très rare associant une microcéphalie, une malformation cardiaque, une hypoplasie rénale et un trouble de la segmentation pulmonaire"},"de":{"name":"Mikrozephalie - Herzfehler - Lungenfehlbildung","synonyms":["Ellis-Yale-Winter-Syndrom"],"definition":"Das Mikrozephalie-Herzfehler-Lungenfehlsegmentation-Syndrom ist sehr selten und gekennzeichnet durch die Kombination von Mikrozephalie, Herzfehlern, Nierenhypoplasie, Lungensegmentationsdefekten und Gaumenspalte."},"es":{"name":"Síndrome de microcefalia-defecto cardíaco-malsegmentación pulmonar","definition":"El síndrome microcefalia - cardiopatía - malsegmentación pulmonar es un síndrome muy raro caracterizado por la combinación de: microcefalia, cardiopatías, hipoplasia renal, defectos en la segmentación pulmonar y paladar hendido."},"it":{"name":"Microcefalia - cardiopatia - difetti della segmentazione polmonare","definition":"L'associazione tra microcefalia-cardiopatia-difetti della segmentazione polmonare configura una sindrome molto rara, caratterizzata dall'associazione tra microcefalia, cardiopatie, ipoplasia renale, difetti della segmentazione polmonare e palatoschisi. È stata descritta in tre sorelle (compreso un feto). I dismorfismi facciali non sono caratteristici. La prognosi è sfavorevole e il decesso sopraggiunge di solito nei primi mesi di vita. La malattia è probabilmente ereditata come carattere autosomico recessivo."},"nl":{"name":"Microcefalie - hartdefect - longmalsegmentatie-syndroom","synonyms":["Syndroom van Ellis-Yale-Winter"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door de combinatie van microcefalie, hartdefecten, nierhypoplasie, defecten van longsegmentatie, en gespleten gehemelte."},"pt":{"name":"Síndrome de microcefalia-anomalia cardíaca-defeito de segmentação pulmonar","synonyms":["Síndrome Ellis-Yale-Winter"],"definition":"A síndrome microcefalia - defeito cardíaco - má-segmentação pulmonar é uma síndrome muito rara caracterizada pela combinação de microcefalia, anomalias cardíacas, hipoplasia renal, defeitos de segmentação pulmonar e fenda do palato."},"pl":{"name":"Małogłowie - wada serca - nieprawidłowa segmentacja płuc","synonyms":["Zespół Ellisa, Yale i Winter"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, srdeční vadu a malsegmentaci plic","synonyms":["Ellisův-Yaleův-Winterův syndrom","Ellis-Yale-Winterův syndrom"]},"uk":{"name":"Синдром мікроцефалії-серцевої вади-мальсегментації легень","synonyms":["Синдром Елліса-Йела-Вінтерна"],"definition":"Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate."},"zh":{"name":"小头畸形-心脏缺陷-肺分段异常综合征","synonyms":["Ellis-Yale-Winter 综合征"]},"tr":{"name":"Mikrosefali-kardiyak defekt-akciğer malsegmentasyon sendromu","synonyms":["Ellis-Yale-Winter sendromu"]}},"xrefs":[{"source":"OMIM","code":"601355","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":"attributed","validated":true},{"source":"MONDO","code":"0011050","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536205","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931129","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2098","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8723562[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8723562[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-04","source":null,"terms":[{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000383","label":"Abnormality of periauricular region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null}]}}