{"orpha":2547,"name":"Microphthalmia-microtia-fetal akinesia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Thomas-Jewett-Raines syndrome"],"definition":"A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2547/","orphanet_url":"https://www.orpha.net/en/disease/detail/2547","names":{"fr":{"name":"Syndrome de microphtalmie-microtie-akinésie foetale","synonyms":["Syndrome de Thomas-Jewtt-Raines"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique létal rare caractérisé par l'association d'une séquence d'akinésie foetale, d'une microphtalmie bilatérale, d'une microtie et d'un tronc artériel commun persistant. Parmi les autres caractéristiques dysmorphiques figurent un front proéminent, un petit nez, une micrognathie, ainsi qu'une camptodactylie et un symphalangisme. Des contractures des grandes articulations et un micropénis ont également été rapportés."},"de":{"name":"Mikrophthalmie-Mikrotie-fetale Akinesie-Syndrom","synonyms":["Thomas-Jewett-Raines-Syndrom"],"definition":"Ein letal verlaufendes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch die Assoziation von fetaler Akinesie-Sequenz, bilateraler Mikrophthalmie, Mikrotie und persistierendem Truncus arteriosus gekennzeichnet ist. Zu den weiteren dysmorphen Merkmalen gehören eine vorstehende Stirn, eine kleine Nase, Mikrognathie sowie Kamptodaktylie und Symphalangismus. Es wurde auch über Kontrakturen der großen Gelenke und einen Mikropenis berichtet."},"es":{"name":"Síndrome de microftalmia-microtia-aquinesia fetal","synonyms":["Síndrome de Thomas-Jewtt-Raines"],"definition":"Es un síndrome dismórfico/ con anomalías congénitas múltiples, letal y poco frecuente, caracterizado por la asociación de la secuencia de acinesia fetal, microftalmia bilateral, microtia y tronco arterioso persistente. Otros rasgos dismórficos incluyen frente prominente, nariz pequeña, micrognatia, así como camptodactilia y sinfalangismo. También se han descrito contracturas de las grandes articulaciones y micropene."},"it":{"name":"Microftalmia - microtia - acinesia - ritardo mentale","synonyms":["Sindrome di Thomas-Jewtt-Raines"]},"nl":{"name":"Microftalmie - microtie - foetale akinesie-syndroom","synonyms":["Syndroom van Thomas-Jewett-Raines"],"definition":"Een zeldzaam letaal syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door de associatie van foetale akinesie sequentie, bilaterale microftalmie, microtie, en persisterende truncus arteriosus. Bijkomende dysmorfe kenmerken zijn onder meer prominent voorhoofd, kleine neus, micrognathie, alsook camptodactylie en symfalangisme. Contracturen van grote gewrichten en micropenis werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de microftalmia-microtia-acinesia fetal","synonyms":["Síndrome Thomas-Jewett-Raines"],"definition":"Síndrome dismórfica/anomalias congénitas múltiplas, letal, rara e caracterizada pela associação de sequência de acinesia fetal, microftalmia bilateral, microtia e truncus arteriosus persistente. Características dismórficas adicionais incluem fronte proeminente, nariz pequeno, micrognatia, e camptodactilia e sinfalangismo. Foram descritas contraturas de grandes articulações e micropénis."},"pl":{"name":"Mikroftalmia - mikrotia - akinezja płodu","synonyms":["Zespół Thomasa, Jewetta i Rainesa"],"definition":"Rzadki, letalny zespół mnogich wad wrodzonych/zespół dysmorficzny charakteryzujący się akinezją płodu, obustronnym małooczem, niedorozwojem małżowin usznych oraz przetrwałym pniem tętnicznym. Dodatkowe cechy dysmorficzne obejmują wydatne czoło, mały nos, mikrognację, a także kamptodaktylię i symfalangizm. Zgłaszano również przykurcze dużych stawów i obecność mikropenisa."},"cs":{"name":"Syndrom zahrnující mikroftalmii, mikrocii a fetální akinezi","synonyms":["Thomasův-Jewettův-Rainesův syndrom","Thomas-Jewett-Rainesův syndrom"]},"uk":{"name":"Синдром мікрофтальмії-мікротії-акінезії плода","synonyms":["Синдром Томаса-Джуетта-Рейнса"],"definition":"A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported."},"zh":{"name":"小眼-小耳-胎儿运动障碍综合征","synonyms":["Thomas-Jewett-Raines 综合征"]},"tr":{"name":"Mikroftalmi-mikrotia-fetal akinezi sendromu","synonyms":["Thomas-Jewett-Raines sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0043143","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536513","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931224","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3650","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8484406[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8484406[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100867","label":"Duodenal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null}]}}