{"orpha":2119,"name":"HEC syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hydrocephalus-endocardial fibroelastosis-cataract syndrome"],"definition":"A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2119/","orphanet_url":"https://www.orpha.net/en/disease/detail/2119","names":{"fr":{"name":"Syndrome HEC","synonyms":["Syndrome d'hydrocéphalie-fibroélastoses-cataracte"],"definition":"Maladie cardiaque syndromique rare caractérisée par une hydrocéphalie communicante associée à une fibroélastose endocardique et une cataracte congénitale. La maladie a été associée à des antécédents d'infections des voies respiratoires supérieures chez la mère au cours du premier trimestre de la grossesse et de polyhydramnios au cours du troisième trimestre. Aucun signe de toxoplasmose, de rubéole, de cytomégalovirus, de virus herpès simplex, de syphilis et de galactosémie n'a été rapporté. Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"HEC-Syndrom","synonyms":["Hydrozephalus-endokardiale Fibroelastose-Katarakt-Syndrom"],"definition":"Eine seltene syndromale Herzerkrankung, die charakterisiert ist durch einen kommunizierenden Hydrozephalus, Endokard-Fibroelastose und kongenitale Katarakt. Eine vorangegangene Infektion der oberen Atemwege bei der Mutter während des ersten Trimesters der Schwangerschaft und Polyhydramnion im dritten Trimester wurden berichtet. Serologische Tests auf Toxoplasmose, Röteln, Cytomegalovirus, Herpes simplex-Virus und Syphilis waren negativ, ebenso ein Galaktosämie-Screening. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome HEC","synonyms":["Hidrocefalia-fibroelastosis-cataratas"],"definition":"Es una enfermedad cardíaca sindrómica y poco frecuente caracterizada por hidrocefalia comunicante, fibroelastosis endocárdica y cataratas congénitas. Se ha asociado a antecedentes maternos de infección de las vías respiratorias superiores en el primer trimestre del embarazo y de polihidramnios en el tercer trimestre. No se ha asociado a toxoplasmosis, rubéola, citomegalovirus, virus del herpes simple, sífilis o galactosemia. No ha habido más casos descritos en la literatura desde 1995."},"it":{"name":"Sindrome HEC","synonyms":["Idrocefalo - fibroelastosi - cataratta"],"definition":"Si tratta di una cardiopatia sindromica rara, caratterizzata da idrocefalo comunicante, fibroelastosi endocardica e cataratta congenita. Si associa a un'anamnesi positiva per infezioni delle vie aeree superiori nella madre durante il primo trimestre di gravidanza, e per polidramnios nel terzo trimestre, in assenza di evidenze di toxoplasmosi, rosolia, citomegalovirus, herpes simplex virus, sifilide e galattosemia. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"HEC-syndroom","synonyms":["Hydrocefalus - endocardiale fibro-elastose - cataract-syndroom"],"definition":"Een zeldzame, syndromale hartziekte gekarakteriseerd door communicerende hydrocefalie, endocardiale fibro-elastose, en congenitale cataracten. Een voorgeschiedenis met infectie van de bovenste luchtwegen van de moeder tijdens het eerste trimester van de zwangerschap en polyhydramnion in het derde trimester werd reeds geassocieerd. Er werd geen bewijs van toxoplasmose, rubella, cytomegalovirus, herpes-simplexvirus, syfilis, en galactosemie gerapporteerd. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome HEC","synonyms":["Síndrome de hidrocefalia-fibroelastose endocárdica-cataratas"]},"pl":{"name":"Zespół HEC","synonyms":["Wodogłowie - fibroelastoza endokardialna - zaćma"]},"cs":{"name":"HEC syndrom","synonyms":["Syndrom zahrnující hydrocefalus, endokardiální fibroelastózu a katarakta"]},"uk":{"name":"HEC синдром","synonyms":["Синдром гідроцефалії-ендокардіального фіброеластозу-катарактичного синдрому"],"definition":"A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evience of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995."},"zh":{"name":"HEC综合征","synonyms":["脑积水-心内膜弹力纤维增生症-白内障综合征"]},"tr":{"name":"HEC sendromu","synonyms":["Hidrosefali-endokardiyal fibroelastoz-katarakt sendromu"]}},"xrefs":[{"source":"OMIM","code":"600559","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010901","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535855","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833607","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2620","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217607,"name":"Familial dilated cardiomyopathy","classifications":[146,156]},{"orpha":217635,"name":"Familial restrictive cardiomyopathy","classifications":[146,156]},{"orpha":324767,"name":"Non-familial rare disease with dilated cardiomyopathy","classifications":[146,233]},{"orpha":217720,"name":"Non-familial restrictive cardiomyopathy","classifications":[146]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7747788[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7747788[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001706","label":"Endocardial fibroelastosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100673","label":"Vaginal hydrocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null}]}}