{"orpha":496693,"name":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gershoni-Baruch syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-496693/","orphanet_url":"https://www.orpha.net/en/disease/detail/496693","names":{"fr":{"name":"Syndrome d'omphalocèle-hernie diaphragmatique-anomalie cardio-vasculaire-anomalie du rayon radial","synonyms":["Syndrome Gershoni-Baruch"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisées par une omphalocèle étendue contenant le foie et l'intestin grêle, une hernie diaphragmatique, des malformations cardiovasculaires (par exemple, une coarctation de l'aorte), des malformations variables des membres (notamment une synostose radio-ulnaire, une agénésie du radius et/ou du pouce, une syndactylie généralisée et un nombre réduit d'orteils) et une dysmorphie faciale. Parmi les autres signes cliniques rapportés figurent notamment, l'absence unilatérale d'artère ombilicale, la malrotation intestinale, une hypoplasie des ovaires et l'agénésie rénale unilatérale. Dans la plupart des cas, pendant la période néonatale, la maladie est létale."},"de":{"name":"Omphalozele-Diaphragmahernie-kardiovaskuläre Anomalien-Radialstrahlendefekt-Syndrom","synonyms":["Gershoni-Baruch-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine große Omphalozele (die Leber und Dünndarm umfasst), eine Zwerchfellhernie, kardiovaskuläre Anomalien (z. B. Aortenkoarktation), variable Fehlbildungen der Extremitäten (einschließlich Radioulnar-Synostose, Agenesie der Speiche und/oder des Daumens, generalisierte Syndaktylie und numerische Reduktion der Zehen) und Gesichtsdysmorphien gekennzeichnet ist. Weitere gemeldete Manifestationen sind u. a. das einseitige Fehlen der Nabelarterie, Darmmalrotation, hypoplastische Eierstöcke und einseitige Nierenagenesie. Die Störung verläuft in der Regel in der Neugeborenenperiode tödlich."},"es":{"name":"Síndrome de onfalocele-hernia diafragmática-anomalías cardiovasculares-defecto del rayo radial","synonyms":["Síndrome de Gershoni-Baruch"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas poco frecuente caracterizado por un onfalocele gigante que contiene el hígado y el intestino delgado, hernia diafragmática, anomalías cardiovasculares (p. ej., coartación aórtica), malformaciones variables de las extremidades (incluyendo sinostosis radiocubital, agenesia del radio y/o del pulgar, sindactilia generalizada, y reducción numérica de los dedos de los pies) y rasgos faciales dismórficos. Otras manifestaciones adicionales descritas son ausencia unilateral de la arteria umbilical, malrotación intestinal, hipoplasia ovárica y agenesia renal unilateral, entre otras. Por lo general, el trastorno es letal en el período neonatal."},"it":{"name":"Sindrome onfalocele-ernia diaframmatica-anomalie cardiovascolari-difetti del radio","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da un ampio onfalocele che contiene il fegato e l'intestino tenue, da ernia diaframmatica, anomalie cardiovascolari (ad es. coartazione dell'aorta), malformazioni degli arti (sinostosi radioulnare, agenesia del radio e/o del pollice, sindattilia generalizzata e riduzione del numero delle dita dei piedi) e dismorfismi facciali. I pazienti possono presentare anche agenesia monolaterale dell'arteria ombelicale, malrotazione dell'intestino, ipoplasia delle ovaie e agenesia renale monolaterale. Di solito la malattia è letale nel periodo neonatale."},"nl":{"name":"Omfalocele - hernia diaphragmatica - cardiovasculaire anomalieën - radiale straal defect-syndroom","synonyms":["Syndroom van Gershoni-Baruch"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door een grote omfalocele die lever en dunne darm bevat, hernia diafragmatica, cardiovasculaire anomalieen (e.g. coarctatie van aorta), variabele ledemaatmalformaties (waaronder radio-ulnaire synostose, agenesie van radius en/of duim, gegeneraliseerde syndactylie, en numerieke reductie van tenen), en dysmorfe gelaatskenmerken. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer unilaterale afwezigheid van arteria umbilicalis (navelslagader), intestinale malrotatie, hypoplastische ovaria, en unilaterale agenesie van nier. De aandoening is meestal fataal in de neonatale periode."},"pt":{"name":"Hérnia diafragmática onfalocele-anomalias cardiovasculares - síndrome do defeito do raio radial"},"pl":{"name":"Zespół przepukliny pępowinowej, przepukliny przeponowej, wad układu sercowo-naczyniowego oraz wad promieniowej strony kończyny górnej","synonyms":["Gershoni-Baruch syndrome"]},"cs":{"name":"Syndrom zahrnující omfalokélu, brániční hernii, kardiovaskulární anomálie a defekty radiálního paprsku","synonyms":["Gershoni-Baruch syndrome","Gershoni-Baruchové syndrome"]},"uk":{"name":"Синдром омфалоцеле-діафрагмальної грижи-серцево-судинних аномалій-променевого дефекту","synonyms":["Синдром Гершоні-Баруха"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period."},"zh":{"name":"脐膨出-膈疝-心血管异常-放射线缺陷综合征","synonyms":["Gershoni-Baruch综合征"]},"tr":{"name":"Omfalosel-diyafram fıtığı-kardiyovasküler anomaliler-radyal ışın defekti sendromu","synonyms":["Gershoni-Baruch sendromu"]}},"xrefs":[{"source":"OMIM","code":"609545","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044649","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563701","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836007","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10354","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"26639892[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26639892[PMID]"}],"phenotypes":null}