VACTERL association (original) (raw)
متلازمة فاكترل أو فاتر هي متلازمة تتميز بعيوب خلقية معينة، توجد ثلاثة منها على الأقل في الجنين: عيوب الفقرات، رتق الشرج، عيوب خلقية في القلب، ناسور قصبي مريئي، عيوب الكلى وعيوب الأطراف.
| Property | Value |
|---|---|
| dbo:abstract | متلازمة فاكترل أو فاتر هي متلازمة تتميز بعيوب خلقية معينة، توجد ثلاثة منها على الأقل في الجنين: عيوب الفقرات، رتق الشرج، عيوب خلقية في القلب، ناسور قصبي مريئي، عيوب الكلى وعيوب الأطراف. (ar) Die Bezeichnung VACTERL-Assoziation fasst eine Kombination komplexer Fehlbildungen auf dem Boden embryonaler, möglicherweise autosomal-rezessiv vererbter Entwicklungsstörungen zusammen. VACTERL ist ein Acronym, das die möglichen Fehlbildungen beschreibt: * V – Vertebrale Anomalien / Fehlbildungen der Wirbelsäule (vertebral) * A – Anale und Aurikuläre Anomalien / Fehlbildungen des Afterbereiches z. B.: Analatresie (Verschluss des Afters oder Mastdarms) * C – Herzfehler (engl.: cardiac defects) vor allem Kammerscheidewanddefekt (Ventrikelseptumdefekt) * T – Tracheo-ösophageale Fistel / Verbindung zwischen Luft- und Speiseröhre * E – Ösophagusatresie (engl.: esophagus) / Speiseröhrenverschluss * R – Renale Fehlbildung / Nierenfehlbildungen / Nierenagenesie (renal) * L – Limb-Fehlbildungen / Fehlbildung der Gliedmaßen, Arme oder Beine (z. B. Daumenfehlbildungen, Klumphand) Hat ein Kind mindestens drei dieser Fehlbildungen, wird es medizinisch gesehen zur Gruppe der Kinder mit VACTERL-Assoziation gerechnet, synonym gebräuchlich ist auch VATER-Syndrom. (de) edo VACTERL elkartzea (GNS:Q87.2) sortzetiko malformazioen ez-randomizaturiko elkartzea da. Sindrome baino asoziazio edo elkartze deitzearen arrazoia gaixotasun hauekin loturiko geneak ez ezagutzea da. Izena ingelesezko akronimoan du jatorria eta ohikoen diren sortzetiko akatsak deskribatzen ditu: * vertebral anomalies: ornoetako anomaliak * anal atresia: uzki-atresia * cardiac defects: bihotzeko sortzetiko gaixotasunak * tracheoesophageal fistula: fistula trakeoesofagikoak * esophageal atresia: hestegorriko atresia * renal anomalies: giltzurrun anomaliak * limbs defects: gorputz-adarretako akatsak Gaixo bakoitzak duen sintoma multzoen konbinaketa bakarra da, beste gaixoetatik bereizituz. Kausak edo arrazoiak oraindik eztabaidan daude, baina ziurrenik jatorri multifaktoriala izango du: * Klippel Feil eta Goldenhar sindromean gertatzen diren crossover-ak * amek haurdun ez gelditzeko hartzen dituzten botika profilaktikoak. * diabetesdun amen seme-alabetan ohikoagoa da sindromea * zenbait akats kromosomiko, 18 kromosomako trisonomia bezalaxe (eu) El VACTERL es una asociación de alta frecuencia, es decir, un conjunto de múltiples anomalías que no pueden catalogarse como un síndrome y que se presentan en al menos dos individuos y que no pueden atribuirse al azar. Se trata de una enfermedad extremadamente rara del desarrollo embrionario que afecta a diversas estructuras y vísceras del cuerpo humano.[cita requerida] (es) Le syndrome de VACTERL (ou « association VACTERL ») est un ensemble d'anomalies congénitales ou malformations, qui ne répondent à aucun critère précis de regroupement, mais qui n'apparaissent pas non plus de manière aléatoire.C'est une extension du syndrome de VATER. (fr) The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see ). This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence. Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time. Some infants are born with symptoms that cannot be treated and they do not survive. Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar syndrome including crossovers of conditions. No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors. VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm. (en) La sindrome di VATER è un'associazione di difetti congeniti. È infatti anche chiamata associazione di VACTERL, dalle iniziali dei difetti, perché tutti i difetti sono connessi tra loro. Tuttavia è ancora sconosciuto il gene o il set genico che la causa. Alcuni individui presentano Trisomia 18, e si è notata una frequenza maggiore in figli di madri presentanti diabete.È a ogni modo preferita la tesi che sia dovuta a una serie di fattori concomitanti. Ogni persona presentante questa sindrome è piuttosto un caso a parte, perché presenta difetti diversi da ogni altro bambino.Non avendo una base genica come indicazione per la cura, si punta a trattare un problema alla volta coi metodi convenzionali, dando la precedenza via via a quello più grave. La sindrome di VACTERL può essere confrontata con sindromi simili quali la sindrome di Klippel-Feil e la sindrome di Goldenhar, che comprendono un'incrociarsi di condizioni che le rendono complesse. (it) Asocjacja VACTERL (ang. VACTERL association) – skojarzenie (asocjacja) wad wrodzonych; angielskie nazwy możliwych wad wchodzących w skład tej asocjacji tworzą akronim VACTERL i są to: * V – wady kręgów (ang. vertebral anomalies) * A – atrezja odbytu (anal atresia) * C – wrodzone wady serca (cardiac abnormalities) * T – przetoka tchawiczo-przełykowa (tracheo-esophagal fistula) * E – atrezja przełyku (esophagal atresia) * R – wady nerek (renal abnormalities) albo dysplazja kości promieniowej (radial dysplasia) * L – wady kończyn (limb abnormalities). Asocjację VATER opisali pierwsi L. Quan i D.W. Smith w 1972 roku w artykule „The VATER association: vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial dysplasia”. Z czasem wprowadzono pojęcie asocjacji VACTERL i VACTERl-H (H od hydrocephalus – wodogłowie). Jak dotąd nie udało się wykryć jednoznacznego genetycznego podłoża tych skojarzeń wad. Na rozpoznanie asocjacji VACTERL pozwala, według różnych autorów, wykrycie trzech lub czterech wad. (pl) A associação ou síndrome de VACTERL (VATER) é uma associação não-aleatória de defeitos congênitos. Embora todos esses defeitos estejam ligados, ainda é desconhecido o gene ou o grupo de genes que causam essas malformações de nascença, razão para se chamar essa desordem, preferencialmente, de "associação", ao invés de "síndrome". As causas dessa associação são discutidas. A associação VACTERL pode estar ligada a outras condições semelhantes, como a Síndrome de Klippel-Feil ou de Goldenhar, inclusive a cruzamentos de condições. Problemas genéticos ou cromossômicos não específicos têm sido identificados na associação VACTERL, a qual pode ser vista com alguns defeitos cromossômicos, como a trissomia do 18, e, mais frequentemente, em filhos de mães diabéticas. A associação VACTERL, contudo, é mais provavelmente causada por múltiplos fatores. A associação VACTERL refere-se, especificamente, às anormalidades nas estruturas derivadas do mesoderma embrionário. (pt) Ассоциация VACTERL — группа сочетанных аномалий развития. Название VACTERL составлено из первых букв пороков, входящих в состав синдрома: * V (англ. Vertebral anomalies) — аномалии позвоночника (70 %), * А (англ. Anal аtresia) — атрезия ануса (55 %), * С (англ. Cardiovascular anomalies) — дефекты перегородок и другие пороки сердца (75 %), * ТЕ (англ. Tracheo-esophageal fistula) — трахеопищеводный свищ с атрезией пищевода (70 %), * R (англ. Renal defects) — аномалии почек (50 %) — агенезия, дисплазия, гидронефроз; единственная пупочная артерия. * L (англ. Limb defects) — дефекты лучевой кости — гипоплазия I пальца или лучевой кости, преаксиальная полидактилия и синдактилия (70 %); (ru) |
| dbo:diseasesDB | 13779 |
| dbo:icd10 | Q87.2 |
| dbo:omim | 192350 (xsd:integer) |
| dbo:thumbnail | wiki-commons:Special:FilePath/VACTERL.jpg?width=300 |
| dbo:wikiPageID | 2707116 (xsd:integer) |
| dbo:wikiPageLength | 13023 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1124705795 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Scoliosis dbr:MURCS_association dbr:Mesoderm dbr:Congenital_heart_disease dbr:Holt–Oram_syndrome dbr:Currarino_syndrome dbc:Syndromes_affecting_the_heart dbr:Renal_agenesis dbr:Tracheoesophageal_fistula dbr:Opitz_G/BBB_syndrome dbr:Transposition_of_the_great_arteries dbr:Feingold_syndrome dbr:Fryns_syndrome dbr:Persistent_truncus_arteriosus dbr:Syndrome dbr:Tetralogy_of_Fallot dbr:Medical_genetics dbc:Syndromes_with_dysmelia dbr:Esophageal_atresia dbr:Fanconi_anemia dbr:Baller–Gerold_syndrome dbr:Ambiguous_genitalia dbr:Goldenhar_syndrome dbr:Kidney_failure dbr:Radius_(bone) dbc:Congenital_disorders dbc:Rare_syndromes dbr:Hypoplasia dbr:Atrial_septal_defect dbr:Abdominal_wall_defect dbr:Kidney dbr:Kidney_transplant dbr:Birth_defect dbr:Syndactyly dbr:DiGeorge_syndrome dbr:Diabetes dbr:Diaphragmatic_hernia dbr:CHARGE_syndrome dbr:Imperforate_anus dbr:Radial_aplasia dbr:Townes–Brocks_syndrome dbr:Single_umbilical_artery dbr:Ventricular_septal_defect dbr:Oligohydramnios dbr:Pallister–Hall_syndrome dbr:Polydactyly dbr:Teratology dbr:Trisomy_18 dbr:Oesophageal_atresia dbr:Hypoplastic_thumb dbr:Hemolytic_uremic_syndrome dbr:Absent_radius dbr:22q11_deletion_syndrome dbr:Vertebral_anomalies dbr:Anorectal_malformations dbr:CHARGE_Association dbr:Cardiovascular_anomalies dbr:Klippel_Feil |
| dbp:caption | Newborn with radial aplasia of the right arm, is displaying a limb anomaly included in VACTERL association (en) |
| dbp:diseasesdb | 13779 (xsd:integer) |
| dbp:field | dbr:Medical_genetics |
| dbp:icd | (en) Q87.2 (en) |
| dbp:name | VACTERL association (en) |
| dbp:omim | 192350 (xsd:integer) |
| dbp:synonyms | VATER association, VATER syndrome, VACTERL syndrome (en) |
| dbp:wikiPageUsesTemplate | dbt:Citation_needed dbt:Cite_journal dbt:Commons_category dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:More_citations_needed dbt:Reflist dbt:Phakomatoses_and_other_congenital_malformations_not_elsewhere_classified |
| dbp:wordnet_type | http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dcterms:subject | dbc:Syndromes_affecting_the_heart dbc:Syndromes_with_dysmelia dbc:Congenital_disorders dbc:Rare_syndromes |
| rdf:type | owl:Thing wikidata:Q12136 yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 dbo:Disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes |
| rdfs:comment | متلازمة فاكترل أو فاتر هي متلازمة تتميز بعيوب خلقية معينة، توجد ثلاثة منها على الأقل في الجنين: عيوب الفقرات، رتق الشرج، عيوب خلقية في القلب، ناسور قصبي مريئي، عيوب الكلى وعيوب الأطراف. (ar) El VACTERL es una asociación de alta frecuencia, es decir, un conjunto de múltiples anomalías que no pueden catalogarse como un síndrome y que se presentan en al menos dos individuos y que no pueden atribuirse al azar. Se trata de una enfermedad extremadamente rara del desarrollo embrionario que afecta a diversas estructuras y vísceras del cuerpo humano.[cita requerida] (es) Le syndrome de VACTERL (ou « association VACTERL ») est un ensemble d'anomalies congénitales ou malformations, qui ne répondent à aucun critère précis de regroupement, mais qui n'apparaissent pas non plus de manière aléatoire.C'est une extension du syndrome de VATER. (fr) Ассоциация VACTERL — группа сочетанных аномалий развития. Название VACTERL составлено из первых букв пороков, входящих в состав синдрома: * V (англ. Vertebral anomalies) — аномалии позвоночника (70 %), * А (англ. Anal аtresia) — атрезия ануса (55 %), * С (англ. Cardiovascular anomalies) — дефекты перегородок и другие пороки сердца (75 %), * ТЕ (англ. Tracheo-esophageal fistula) — трахеопищеводный свищ с атрезией пищевода (70 %), * R (англ. Renal defects) — аномалии почек (50 %) — агенезия, дисплазия, гидронефроз; единственная пупочная артерия. * L (англ. Limb defects) — дефекты лучевой кости — гипоплазия I пальца или лучевой кости, преаксиальная полидактилия и синдактилия (70 %); (ru) Die Bezeichnung VACTERL-Assoziation fasst eine Kombination komplexer Fehlbildungen auf dem Boden embryonaler, möglicherweise autosomal-rezessiv vererbter Entwicklungsstörungen zusammen. VACTERL ist ein Acronym, das die möglichen Fehlbildungen beschreibt: Hat ein Kind mindestens drei dieser Fehlbildungen, wird es medizinisch gesehen zur Gruppe der Kinder mit VACTERL-Assoziation gerechnet, synonym gebräuchlich ist auch VATER-Syndrom. (de) edo VACTERL elkartzea (GNS:Q87.2) sortzetiko malformazioen ez-randomizaturiko elkartzea da. Sindrome baino asoziazio edo elkartze deitzearen arrazoia gaixotasun hauekin loturiko geneak ez ezagutzea da. Izena ingelesezko akronimoan du jatorria eta ohikoen diren sortzetiko akatsak deskribatzen ditu: Gaixo bakoitzak duen sintoma multzoen konbinaketa bakarra da, beste gaixoetatik bereizituz. Kausak edo arrazoiak oraindik eztabaidan daude, baina ziurrenik jatorri multifaktoriala izango du: (eu) The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see ). This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence. No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors. (en) La sindrome di VATER è un'associazione di difetti congeniti. È infatti anche chiamata associazione di VACTERL, dalle iniziali dei difetti, perché tutti i difetti sono connessi tra loro. Tuttavia è ancora sconosciuto il gene o il set genico che la causa. Alcuni individui presentano Trisomia 18, e si è notata una frequenza maggiore in figli di madri presentanti diabete.È a ogni modo preferita la tesi che sia dovuta a una serie di fattori concomitanti. (it) Asocjacja VACTERL (ang. VACTERL association) – skojarzenie (asocjacja) wad wrodzonych; angielskie nazwy możliwych wad wchodzących w skład tej asocjacji tworzą akronim VACTERL i są to: * V – wady kręgów (ang. vertebral anomalies) * A – atrezja odbytu (anal atresia) * C – wrodzone wady serca (cardiac abnormalities) * T – przetoka tchawiczo-przełykowa (tracheo-esophagal fistula) * E – atrezja przełyku (esophagal atresia) * R – wady nerek (renal abnormalities) albo dysplazja kości promieniowej (radial dysplasia) * L – wady kończyn (limb abnormalities). (pl) A associação ou síndrome de VACTERL (VATER) é uma associação não-aleatória de defeitos congênitos. Embora todos esses defeitos estejam ligados, ainda é desconhecido o gene ou o grupo de genes que causam essas malformações de nascença, razão para se chamar essa desordem, preferencialmente, de "associação", ao invés de "síndrome". As causas dessa associação são discutidas. A associação VACTERL pode estar ligada a outras condições semelhantes, como a Síndrome de Klippel-Feil ou de Goldenhar, inclusive a cruzamentos de condições. (pt) |
| rdfs:label | متلازمة فاكترل (ar) VACTERL-Assoziation (de) Síndrome de VACTERL (es) VATERL sindrome (eu) Syndrome de VACTERL (fr) Sindrome di VATER (it) Asocjacja VACTERL (pl) Associação VACTERL (pt) Ассоциация VACTERL (ru) VACTERL association (en) |
| owl:sameAs | freebase:VACTERL association yago-res:VACTERL association wikidata:VACTERL association dbpedia-ar:VACTERL association dbpedia-de:VACTERL association dbpedia-es:VACTERL association dbpedia-eu:VACTERL association dbpedia-fi:VACTERL association dbpedia-fr:VACTERL association dbpedia-it:VACTERL association dbpedia-pl:VACTERL association dbpedia-pt:VACTERL association dbpedia-ru:VACTERL association dbpedia-th:VACTERL association dbpedia-vi:VACTERL association https://global.dbpedia.org/id/hnqd |
| prov:wasDerivedFrom | wikipedia-en:VACTERL_association?oldid=1124705795&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/VACTERL.jpg |
| foaf:isPrimaryTopicOf | wikipedia-en:VACTERL_association |
| foaf:name | VACTERL association (en) |
| is dbo:wikiPageRedirects of | dbr:Vacterl_association dbr:Vater_association dbr:VACTERL dbr:Hunter-MacMurray_syndrome dbr:Briard-Evans_syndrome dbr:David-O'Callaghan_syndrome dbr:VACTERL_syndrome dbr:VACTER_syndrome dbr:VATER dbr:VATER/VACTERL_syndrome dbr:VATER_Syndrome dbr:VATER_association dbr:VATER_syndrome dbr:VETER_syndrome |
| is dbo:wikiPageWikiLink of | dbr:FANCB dbr:List_of_diseases_(V) dbr:List_of_fetal_abnormalities dbr:Pediatric_surgery dbr:Double_bubble_(radiology) dbr:Dysmelia dbr:Thumb_hypoplasia dbr:Pulmonary_atresia_with_ventricular_septal_defect dbr:Congenital_heart_defect dbr:Congenital_vertebral_anomaly dbr:Make_a_Film_Foundation dbr:Syndrome dbr:Esophageal_atresia dbr:List_of_OMIM_disorder_codes dbr:Bladder_outlet_obstruction dbr:Vacterl_association dbr:Imperforate_anus dbr:Neonatology dbr:Radial_aplasia dbr:Vater dbr:List_of_syndromes dbr:Sirenomelia dbr:Vesicovaginal_fistula dbr:Vater_association dbr:VACTERL dbr:Hunter-MacMurray_syndrome dbr:Briard-Evans_syndrome dbr:David-O'Callaghan_syndrome dbr:VACTERL_syndrome dbr:VACTER_syndrome dbr:VATER dbr:VATER/VACTERL_syndrome dbr:VATER_Syndrome dbr:VATER_association dbr:VATER_syndrome dbr:VETER_syndrome |
| is foaf:primaryTopic of | wikipedia-en:VACTERL_association |
