{"orpha":506307,"name":"Stromme syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome","Jejunal atresia-microcephaly-ocular anomalies syndrome"],"definition":"A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-506307/","orphanet_url":"https://www.orpha.net/en/disease/detail/506307","names":{"fr":{"name":"Syndrome de Stromme","synonyms":["Syndrome d'apple peel-microcéphalie-anomalies oculaires","Syndrome d'atrésie jéjunale-microcéphalie-anomalies oculaires"],"definition":"Syndrome rare d'anomalies congénitales multiples généralement caractérisé par une microcéphalie, des anomalies oculaires telles que la microphtalmie et par une atrésie intestinale de type « pelure de pomme ». La dysmorphie faciale rapportée dans certains cas peut inclure un front étroit ou applati, un hypertélorisme, une microphtalmie, des yeux dysplasiques et oedémateux situés profondément dans les orbites, des fentes palpébrales courtes, de grandes oreilles implantées bas, un pont nasal large, une pointe nasale antéversée ou large, un long philtrum, une micrognathie, un vermillon supérieur mince, une grande bouche et des acrochordons sur la joue. Un retard moteur et une déficience intellectuelle ont été rapportés. Des anomalies cardiaques, cérébrales et craniofaciales, l'hypoplasie rénale et d'autres anomalies (par exemple, oedème des membres inférieurs, thrombocytopénie) sont présentes de manière inconstante. On observe par ailleurs des rares cas sans atrésie intestinale, microcéphalie ou retard de développement. Des cas létaux sévères ont également été rapportés."},"de":{"name":"Stromme-Syndrom","synonyms":["Apfelschalenartige Intestinalatresie-Augenanomalien-Mikrozephalie-Syndrom","Jejunalatresie-Mikrozephalie-Augenanomalien-Syndrom"],"definition":"Das Stromme-Syndrom ist mit multiplen angeborenen Anomalien assoziiert, einschließlich Mikrozephalie, Augenanomalien wie Mikrophthalmie und hereditäre Jejunalatresie (Apple-peel-Syndrom). In einigen Fällen wurde über Gesichtsdysmorphien berichtet, zu denen eine schmale oder hängende Stirn, Hypertelorismus, Mikrophthalmie, dysplastische, ödematöse, tief liegende Augen, kurze Lidspalten, große oder tief liegende Ohren, eine breite Nasenwurzel, eine antevertierte oder breite Nasenspitze, ein langes Philtrum, Mikrognathie, ein dünnes Oberlippenvermillion, ein großer Mund und Hautanhängsel an den Wangen gehören können. Zu den weiteren Manifestationen zählen motorische Verzögerungen und Intelligenzminderungen. Kardiale, zerebrale und kraniofaziale Anomalien, Nierenhypoplasie und andere Anomalien (z. B. Ödeme der unteren Extremitäten, Thrombozytopenie) treten in unterschiedlichem Ausmaß auf. Selten treten auch Fälle ohne Darmatresie, Mikrozephalie oder Entwicklungsverzögerung auf. Auch schwere tödliche Fälle sind beschrieben."},"es":{"name":"Síndrome de Stromme","synonyms":["Síndrome de atresia intestinal en piel de manzana-anomalías oculares-microcefalia","Síndrome de atresia yeyunal-microcefalia-anomalías oculares"],"definition":"Es un síndrome de múltiples anomalías congénitas poco frecuentes caracterizado, típicamente, por microcefalia, anomalías oculares tales como la microftalmia y atresia intestinal en ''apple-peel''. En algunos casos se ha descrito dismorfia facial, pudiendo incluir frente estrecha o inclinada, hipertelorismo, microftalmia, ojos hundidos, edematosos y displásicos, fisuras palpebrales cortas, orejas grandes o de implantación baja, raíz nasal ancha, punta nasal antevertida o ancha, filtrum largo, micrognatia, bermellón superior fino, boca grande y apéndices cutáneos en la mejilla. También se ha descrito retraso motor y discapacidad intelectual. Las anomalías cardíacas, cerebrales y craneofaciales, la hipoplasia renal, así como otros tipos de anomalías (p. ej. edema de las extremidades inferiores, trombocitopenia) se presentan de forma variable. Excepcionalmente, se han descrito algunos pacientes sin atresia intestinal, microcefalia o retraso psicomotor. También se han descrito casos graves con fallecimiento."},"it":{"name":"Sindrome di Stromme","definition":"Si tratta di una malattia rara da anomalie congenite multiple, di solito caratterizzata da microcefalia, anomalie oculari (microftalmia) e atresia intestinale ''a buccia di mela''. Alcuni pazienti presentano dismorfismi facciali, che comprendono la fronte stretta o sfuggente, l'ipertelorismo, la microftalmia, gli occhi infossati displastici ed edematosi, le rime palpebrali corte, le orecchie larghe o a basso impianto, la radice del naso larga, la punta del naso anteversa o larga, il filtro lungo, la micrognazia, l'assottigliamento della parte mucosa del labbro superiore, la bocca larga e le appendici cutanee sulle guance. La malattia può associarsi al ritardo motorio e alla disabilità intellettiva. I pazienti possono presentare anche cardiopatie, dismorfismi craniofacciali, ipoplasia renale e altre anomalie (ad es. edema del labbro inferiore, trombocitopenia). Sono rari i pazienti che non presentano atresia intestinale, microcefalia o ritardo dello sviluppo. Nei casi più gravi la malattia può essere letale."},"nl":{"name":"Syndroom van Stromme","synonyms":["'Appelschil' intestinale atresie - oculaire anomalieën - microcefalie-syndroom","Jejunale atresie - microcefalie - oculaire anomalieën-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, meestal gekarakteriseerd door microcefalie, ooganomalieën zoals microftalmie, en appelschil-atresie van darm. In sommige gevallen werd gelaatsdysmorfie gerapporteerd, met onder meer smal of hellend voorhoofd, hypertelorisme, microftalmie, dysplastische en oedemateuze diepliggende ogen, korte ooglidspleten, grote of laagstaande oren, brede neuswortel, anteversie van neuspunt of brede neuspunt, lang filtrum, micrognathie, dun bovenste vermiljoen, grote mond en acrochordon op wang. Motorische achterstand en intellectuele beperking werden reeds gerapporteerd. Afwijkingen van hart en hersenen, alsook craniofaciale afwijkingen, nierhypoplasie en andere anomalieën (e.g. oedeem van onderste ledematen, trombocytopenie) zijn variabel aanwezig. Zelden worden gevallen zonder intestinale atresie, microcefalie of ontwikkelingsachterstand aangetroffen. Er werden ook reeds ernstige letale gevallen gerapporteerd."},"pt":{"name":"Síndrome Stromme"},"pl":{"name":"Zespół Strommego","synonyms":["Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome","Jejunal atresia-microcephaly-ocular anomalies syndrome"]},"cs":{"name":"Strommův syndrom","synonyms":["Syndrom zahrnující jejunální atrézii, mikrocefalii a oční anomálie","Syndrom zahrnující jejunální atrézii (syndrom jablečné slupky), oční anomálie a mikrocefalii"]},"uk":{"name":"Синдром Стромма","synonyms":["Синдром атрезії кишечнику - очних аномалій- мікроцефалії","Синдром атрезії тонкої кишки-мікроцефалії-очних аномалій"],"definition":"A rare multiple congenital anomalies syndrome usually characterized by microcephaly, ocular anomalies such as microphthalmia, and apple-peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic, edematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb edema, thrombocytopenia) are variably present. Rarely, cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported."},"zh":{"name":"Stromme综合征","synonyms":["苹果皮样肠闭锁-眼球异常-小头畸形综合征"],"definition":"一种罕见的多发性先天性异常综合征，通常以小头畸形、眼部异常如小眼畸形和苹果皮肠道闭锁为特征。据报道，部分病例有面部畸形，可能包括前额狭窄或倾斜、器官间距过远、小眼畸形、发育不良、水肿性眼深陷、短睑裂、大耳或低位耳、鼻根宽大、鼻尖前倾或宽大、长人中、小颌、 薄上唇缘、大嘴和颊部赘状瘢痕。有报道称有运动迟缓和智力障碍。心、脑、颅面异常、肾功能减退及其他有不同程度的异常（如下肢水肿、血小板减少）。罕见的是，也有没有肠闭锁、小头畸形或发育迟缓的病例。也有严重的致死性病例。"},"tr":{"name":"Stromme sendromu","synonyms":["Jejunal atrezi-mikrosefali-oküler anomaliler sendromu","Apple-peel bağırsak atrezisi-oküler anomaliler-mikrosefali sendromu"]}},"xrefs":[{"source":"OMIM","code":"243605","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009477","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9477","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565460","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855705","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]},{"orpha":108969,"name":"Syndromic intestinal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"CENPF","name":"centromere protein F","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25564561[PMID]_26820108[PMID]","hgnc":"1857","ensembl":"ENSG00000117724","omim":"600236","loci":["1q41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"18203155[PMID]_26820108[PMID]_28407396[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28407396[PMID]"}],"phenotypes":null}