{"orpha":514352,"name":"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Serpentine-like syndrome"],"definition":"A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-514352/","orphanet_url":"https://www.orpha.net/en/disease/detail/514352","names":{"fr":{"name":"Syndrome de brachy-oesophage congénital-estomac intrathoracique-anomalies vertébrales","synonyms":["Syndrome Serpentine-like"],"definition":"Malformation syndromique rare de l'oesophage caractérisée par un brachy-oesophage congénital sévère avec une hernie diaphragmatique médiane, un estomac en position intrathoracique secondaire, et des malformations vertébrales (en particulier le rachischisis de la colonne cervicale/thoracique). Les autres signes cliniques rapportées incluent un retard de croissance intra-utérin, un cou court, une malrotation intestinale, d'autres organes abdominaux herniés et une fente labiale. La maladie est le plus souvent létale au cours de la période néonatale ou dans la petite enfance."},"de":{"name":"Kongenitaler Brachyösophagus-intrathorakaler Magen-Wirbelanomalien-Syndrom","definition":"Eine seltene syndromale Fehlbildung der Speiseröhre, die durch einen schweren kongenitalen Brachyösophagus mit Zwerchfellhernie in der Mittellinie und sekundärem intrathorakalem Magen sowie Wirbelsäulenanomalien (insbesondere Rachischisis der Hals-/Brustwirbelsäule) gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören u. a. intrauterine Wachstumsstörungen, Kurzhalsigkeit, Darmmalrotation, Herniation anderer Bauchorgane und Lippenspalten. Die Erkrankung endet meist tödlich in der Neugeborenen- oder frühen Säuglingsperiode."},"es":{"name":"Síndrome congénito de braquiesófago-estómago intratorácico-anomalías vertebrales","synonyms":["Síndrome congénito similar a Serpentine"],"definition":"Es una malformación esofágica sindrómica poco frecuente caracterizada por braquiesófago congénito grave con hernia diafragmática en la línea media y estómago intratorácico secundario, y anomalías vertebrales (en particular raquisquisis en la columna cervical/torácica). Otras manifestaciones adicionales descritas incluyen restricción del crecimiento intrauterino, cuello corto, malrotación intestinal, hernias en otros órganos abdominales y labio leporino, entre otras. Por lo general, el trastorno es mortal en el período neonatal o en la lactancia temprana."},"it":{"name":"Sindrome congenita del brachiesofago-stomaco intratoracico-anomalie vertebrali","synonyms":["Sindrome Serpentine-like"],"definition":"Si tratta di una malformazione sindromica rara dell'esofago, caratterizzata da brachiesofago grave congenito con ernia diaframmatica mediana, stomaco intratoracico secondario e anomalie delle vertebre (in particolare rachischisi del tratto cervicale/toracico della colonna). I pazienti possono presentare anche ritardo della crescita prenatale, collo corto, malrotazione intestinale, erniazione di altri organi addominali e labioschisi. Di solito la malattia è letale nel periodo neonatale o nella prima infanzia."},"nl":{"name":"Congenitale brachyoesofagus - intrathoracale maag - vertebrale anomalieën-syndroom","synonyms":["Serpentine-achtig syndroom"],"definition":"Een zeldzame syndromale malformatie van oesofagus, gekarakteriseerd door ernstige congenitale brachy-oesofagus met mediane middenrifbreuk en secundaire intrathoracale maag, en vertebrale anomalieën (vooral rachischisis van cervicale/thoracale wervelkolom). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer intra-uteriene groeirestrictie, korte nek, intestinale malrotatie, herniatie van andere abdominale organen, en gespleten lip. De aandoening is meestal fataal in de neonatale of vroeg infantiele periode."},"pt":{"name":"Síndrome de braquiesófago congénito-estômago intratorácico-anomalias vertebrais","synonyms":["Síndrome serpentine-like"]},"pl":{"name":"Zespół wrodzonego krótkego przełyku-przemieszczenia żołądka do klatki piersiowej- wad kręgów","synonyms":["Zespół przypominający ułożenie węża/serpentynę"]},"cs":{"name":"Syndrom zahrnující vrozený brachyezofagus, nitrohrudní uložení žaludku a obratlové anomálie","synonyms":["Plazu podobný syndrom"]},"uk":{"name":"Вроджений синдром брахіезофагуса-внутрішньогрудних шлунково-хребцевих аномалій","synonyms":["Змієподібний синдром"],"definition":"A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period."},"zh":{"name":"先天性食管短缩-胸腔胃-椎体畸形综合征","synonyms":["索样综合征"]},"tr":{"name":"Doğumsal brakiözofagus-intratorasik mide-vertebral anomaliler sendromu","synonyms":["Serpantin benzeri sendrom"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034895","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680208","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371445,"name":"Genetic syndromic esophageal malformation","classifications":[156]},{"orpha":108961,"name":"Syndromic esophageal malformation","classifications":[147,182]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"27836748[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27836748[PMID]"}],"phenotypes":null}