{"orpha":2216,"name":"Maternal hyperthermia-induced birth defects","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2216/","orphanet_url":"https://www.orpha.net/en/disease/detail/2216","names":{"fr":{"name":"Hyperthermie tératogène","definition":"Une embryofoetopathie rare associée à un trouble maternel caractérisé par des anomalies variables du développement du foetus causées par l'effet tératogène de l'élévation de la température corporelle maternelle (due à un état fébrile ou une exposition à un environnement chaud). Les anomalies rapportées incluent des troubles du tube neural (spina bifida, encéphalocèle, anencéphalie), des anomalies cardiaques (transposition des gros vaisseaux), des anomalies urogénitales (hypospadias), des troubles de la paroi abdominale, une fente labiale/palatine, des anomalies oculaires (cataracte, colobome) ou des anomalies mineures variées (comme une uvule bifide, un sinus ou un hamartome pré-auriculaire). Il n'y a pas de consensus au sujet de la relation de cause à effet."},"de":{"name":"Maternale Hyperthermie-induzierte Geburtsfehler","definition":"Durch mütterliche Hyperthermie induzierte Geburtsfehler sind eine seltene Embryofetopathie, die durch variable Entwicklungsanomalien des Fötus aufgrund des teratogenen Effekts einer erhöhten mütterlichen Körpertemperatur (resultierend aus einer fiebrigen Erkrankung oder einer Exposition in heißer Umgebung) gekennzeichnet ist. Zu den berichteten Entwicklungsanomalien gehören Neuralrohrdefekte (Spina bifida, Ezephalozele, Anenzephalie), Herzdefekte (Transposition der großen Gefäße), urogenitale Defekte (Hypospadie), Bauchwanddefekte, Lippen-Kiefer-Gaumenspalten, Augendefekte (Katarakt, Kolobom) oder verschiedene kleinere Anomalien (z. B. bifides Zäpfchen, präaurikuläre Grube oder Tag). Ein Konsens über die Ursache-Wirkungs-Beziehung ist nicht erreicht worden."},"es":{"name":"Defectos de nacimiento inducidos por hipertermia materna","definition":"Es una embriofetopatía por enfermedad materna poco frecuente caracterizada por anomalías variables del desarrollo fetal debido al efecto teratogénico de la elevada temperatura corporal materna (resultante de una enfermedad febril o exposición a un entorno muy caliente). Las anomalías del desarrollo notificadas incluyen defectos del tubo neural (espina bífida, encefalocele, anencefalia), defectos cardíacos (transposición de grandes vasos), defectos urogenitales (hipospadias), defectos de la pared abdominal, labio leporino/paladar hendido, defectos oculares (catarata, coloboma) o anomalías menores diversas (p. ej., úvula bífida, fosa o papiloma preauricular). No se ha llegado a un consenso sobre la relación causa-efecto."},"it":{"name":"Difetti congeniti indotti dall'ipertermia materna","definition":"I difetti congeniti indotti dall'ipertermia materna sono un'embrio/fetopatia rara, caratterizzata da anomalie dello sviluppo fetale di gravità variabile, dovute alla teratogenicità indotta dell'elevata temperatura del corpo della madre (causata da malattie febbrili o dell'esposizione ad un ambiente particolarmente caldo). Le anomalie comprendono i difetti del tubo neurale (spina bifida, encefalocele, anencefalia), le cardiopatie (trasposizione dei grandi vasi), i difetti uro-genitali (ipospadia), i difetti della parete addominale, la labio/palatoschisi, i difetti oculari (cataratta, coloboma) ed altri difetti minori (ugola bifida, fossetta o appendice preauricolare). Non vi è ancora consenso sul rapporto causa-effetto."},"nl":{"name":"Geboortedefecten geïnduceerd door maternale hyperthermie","definition":"Een zeldzame embryofoetopathie gerelateerd aan maternale ziekte, gekenmerkt door variabele ontwikkelingsanomalieën van de foetus als gevolg van teratogeen effect van verhoogde maternale lichaamstemperatuur (door febriele ziekte of blootstelling aan een hete omgeving). Gerapporteerde ontwikkelingsanomalieën zijn onder meer neuralebuisdefecten (spina bifida, encefalocele, anencefalie), hartdefecten (transpositie van grote bloedvaten), urogenitale defecten (hypospadie), buikwanddefecten, gespleten lip/gehemelte, oogdefecten (cataract, coloboom) of verschillende kleinere anomalieën (zoals gespleten huig, pre-auriculaire fistel of aanhangsel). Er werd nog geen consensus bereikt over de relatie tussen oorzaak en gevolg."},"pt":{"name":"Anomalias fetais induzidas por hipertermia materna","synonyms":["Embriofetopatia por hipertermia"]},"pl":{"name":"Matczyna hipertermia powodująca wady płodu","definition":"Rzadka embriofetopatia związana z chorobą u matki, charakteryzująca się różnymi wadami rozwojowymi płodu wynikającymi z teratogennego działania podwyższonej temperatury organizmu matki (związanej z chorobą gorączkową lub narażeniem na wysoką temperaturę otoczenia). Zgłaszane wady rozwojowe obejmują wady cewy nerwowej (rozszczep kręgosłupa, przepuklina mózgowa, bezmózgowie), wady serca (przełożenie wielkich naczyń), wady układu moczowo-płciowego (spodziectwo), wady ściany brzucha, rozszczep wargi/podniebienia, wady oczu (zaćma, coloboma) lub różne mniejsze wady (np. rozdwojony języczek, dołki lub wyrośla przeduszne). Nie osiągnięto konsensusu co do związku przyczynowo-skutkowego."},"cs":{"name":"Maternální hypertermie indukovaná vrozenými vadami"},"uk":{"name":"Вроджені вади розвитку, спричинені материнською гіпертермією","definition":"A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached."},"zh":{"name":"母源性过高热引起出生缺陷"},"tr":{"name":"Maternal hipertermiye bağlı doğum defektleri"}},"xrefs":[{"source":"ICD-10","code":"Q86.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1917022285"},{"source":"MONDO","code":"0016378","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707329","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":251535,"name":"Maternal disease-related embryofetopathy","classifications":[147,216]},{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null}]}}