{"orpha":1305,"name":"Feingold syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brunner-Winter syndrome","Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum","FGLDS","FS","MMT","MODED syndrome","Microcephaly-digital anomalies-normal intelligence syndrome","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome","Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome","ODED syndrome","Oculo-digito-esophageal-duodenal syndrome"],"definition":"A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1305/","orphanet_url":"https://www.orpha.net/en/disease/detail/1305","names":{"fr":{"name":"Syndrome de Feingold","synonyms":["FGLDS","FS","MODED","Syndrome ODED","Syndrome d'anomalies digitales-fentes palpébrales courtes-atrésie oesophagienne ou duodénale","Syndrome de Brunner-Winter","Syndrome de microcéphalie-anomalies digitales-intelligence normale","Syndrome de microcéphalie-déficience intellectuelle-fistule trachéo-oesophagienne","Syndrome de microcéphalie-syndrome oculo-digito-oesophago-duodénal","Syndrome oculo-digito-oesophago-duodénal"],"definition":"Syndrome rare de malformations congénitales d'origine génétique caractérisé par une microcéphalie, une petite taille et de nombreuses anomalies des doigts (brachymésophalangie, clinodactylie du cinquième doigt, syndactylie des orteils et hypoplasie des pouces), ainsi que par un trouble d'apprentissage léger et des fentes palpébrales courtes. Les deux sous-types du syndrome se différencient par la présence (type 1) ou l'absence (type 2) d'une atrésie gastro-intestinale."},"de":{"name":"Feingold-Syndrom","synonyms":["Brunner-Winter-Syndrom","FGLDS","FS","Fingeranomalien mit kurzen Lidspalten und Ösophagus- oder Duodenalatresie","MMT","MODED-Syndrom","ODED-Syndrom","Okulo-digito-ösophageales-duodenales Syndrom"],"definition":"Ein seltenes erbliches Fehlbildungssyndrom, das durch Mikrozephalie, Kleinwuchs und zahlreiche digitale Anomalien (Brachymesophanlangie, Klinodaktylie des fünften Fingers, Syndaktylie der Zehen und hypoplastische Daumen), leichte Lernschwäche und kurze Lidspalten gekennzeichnet ist. Die beiden Subtypen unterscheiden sich klinisch durch das Vorhandensein (Typ 1) oder Fehlen (Typ 2) einer gastrointestinalen Atresie."},"es":{"name":"Síndrome de Feingold","synonyms":["Anomalías digitales con fisuras palpebrales cortas y atresia esófagica o duodenal","Síndrome MODED","Síndrome ODED","Síndrome de Brunner-Winter","Síndrome de microcefalia-anomalías digitales-inteligencia normal","Síndrome de microcefalia-discapacidad intelectual-fístula traqueoesofágica","Síndrome de microcefalia-síndrome óculo-digito-esofágico-duodenal","Síndrome óculo-dígito-esofágico-duodenal"],"definition":"Es un síndrome malformativo congénito genético poco frecuente que se caracteriza por microcefalia, talla baja y numerosas anomalías digitales (braquimesofalangia, clinodactilia del quinto dedo, sindactilia de los dedos del pie y pulgares hipoplásicos), déficit leve de aprendizaje leve y fisuras palpebrales cortas. Los dos subtipos se distinguen clínicamente por la presencia (tipo 1) o ausencia (tipo 2) de atresia gastrointestinal."},"it":{"name":"Sindrome di Feingold","synonyms":["Anomalie digitali con rime palpebrali corte e atresia dell'esofago o del duodeno","FGLDS","FS","MMT","Sindrome microcefalia-deficit cognitivo-fistola tracheo-esofagea","Sindrome MODED","Sindrome ODED","Sindrome di Brunner-Winter","Sindrome microcefalia-anomalie digitali-intelligenza normale","Sindrome oculo-digito-esofageo-duodenale","Sindrome microcefalia-malattia oculo-digito-esofageo-duodenale"],"definition":"La sindrome di Feingold (FS), nota anche come sindrome oculo-digito-esofageo-duodenale (ODED), è una sindrome malformativa ereditaria rara, caratterizzata da microcefalia, bassa statura e numerose anomalie delle dita. Comprende due sottotipi: FS tipo 1 (FS1) e FS tipo 2 (FS2) (si vedano questi termini). La FS1 è di gran lunga la forma più comune, mentre la FS2 è stata descritta solo in 3 pazienti: ha gli stessi segni clinici della FS1, ad eccezione dell'atresia gastrointestinale e delle rime palpebrali corte."},"nl":{"name":"Syndroom van Feingold","synonyms":["Digitale anomalieën met korte palpebrale fissuren en atresie van oesofagus of duodenum","FGLDS","FS","MMT","MODED-syndroom","Microcefalie - digitale anomalieën - normale intelligentie-syndroom","Microcefalie - intellectuele achterstand - tracheo-oesofageale fistel-syndroom","Microcefalie - oculo-digito-oesofageaal-duodenaal syndroom-syndroom","ODED-syndroom","Oculo-digito-oesofageaal-duodenaal syndroom","Syndroom van Brunner-Winter"],"definition":"Een zeldzaam, genetisch congenitaal malformatiesyndroom, gekarakteriseerd door microcefalie, kleine gestalte en tal van anomalieën van vingers/tenen (brachymesofalangie, clinodactylie van vijfde vinger, syndactylie van tenen, en hypoplastische duimen), milde leerstoornis en korte ooglidspleten. De twee subtypes worden klinisch onderscheiden op basis van aanwezigheid (type 1) of afwezigheid (type 2) van gastro-intestinale atresie."},"pt":{"name":"Síndrome Feingold","synonyms":["Síndrome de microcefalia-anomalias digitais-inteligência normal","Síndrome de microcefalia-oculo-digito-esofago-duodenal","Síndrome de microcefalia-perturbação do desenvolvimento intelectual-fístula traqueo-esofágica","Síndrome óculo-digito-esofago-duodenal","Anomalias digitais-fissuras palpebrais pequenas-atresia do esófago ou duodeno","FGLDS","FS","MMT","Síndrome Brunner-Winter","Síndrome MODED","Síndrome ODED"]},"pl":{"name":"Zespół Feingolda","synonyms":["Anomalie palców ze skróceniem szpar powiekowych i atrezją przełyku lub dwunastnicy","FGLDS","FS","Małogłowie - niepełnosprawność intelektualna - szczelina tchawiczo-przełykowa","Małogłowie - zespół oczno-palcowo-przełykowo-dwunastniczy","MMT","Zespół Brunnera i Wintera","Zespół małogłowie-anomalie palców-normalna inteligencja","Zespół MODED","Zespół oczno-palcowo-przełykowo-dwunastniczy","Zespół ODED"]},"cs":{"name":"Feingoldův syndrom","synonyms":["FGLDS","FS","MMT","MODED syndrom","Syndrom zahrnující mikrocefalii a okulodigitoezofagoduodenální syndrom","ODED syndrom","Okulodigitoezofagoduodenální syndrom","Brunnerův-Winterův syndrom","Digitální anomálie s krátkými očními štěrbinami a atrézií jícnu nebo duodena","Syndrom zahrnující mikrocefalii, anomálie prstů a normální intelekt","Syndrom zahrnující mikrocefalii, mentální retardaci a tracheoezofageální píštěl","Brunner-Winterův syndrom"]},"uk":{"name":"Синдром Файнгольда","synonyms":["Синдром Бруннера-Вінтерна","Дигітальні аномалії з короткими пальцевими щілинами та атрезією стравоходу або дванадцятипалої кишки","FGLDS","FS","Cиндром мікроцефалії - аномалії пальців - нормального інтелекту","Мікроцефалія-інтелектуальна недостатність-трахеоезофагеальна нориця","Синдром мікроцефалії-окуло-дигіто-стравохідно-дуоденального синдрому","MMT","Синдром MODED","Око-дигіто-стравохідно-дуоденальний синдром","Синдром ODED"],"definition":"A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia."},"zh":{"name":"Feingold综合征","synonyms":["指畸形伴短睑裂和食管或十二指肠闭锁"]},"tr":{"name":"Feingold sendromu","synonyms":["FS","MMT","FGLDS","ODED sendromu","MODED sendromu","Brunner-Winter sendromu","Okülo-dijito-Özofageal-duodenal sendrom","Mikrosefali-dijital anomaliler-normal zeka sendromu","Mikrosefali-oculo-dijito-özofageal-duodenal sendrom sendromu","Mikrosefali-zihinsel yetersizlik-trakeoözofageal fistül sendromu","Kısa palpebral fissür ve özofagus veya duodenum atrezili dijital anomaliler"]}},"xrefs":[{"source":"OMIM","code":"164280","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614326","qualifier":"BTNT","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":"index","validated":true,"icd11_uri":"1180436726"},{"source":"MONDO","code":"0015267","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537734","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796068","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8407","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":371445,"name":"Genetic syndromic esophageal malformation","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[156]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":108961,"name":"Syndromic esophageal malformation","classifications":[147,182]},{"orpha":108965,"name":"Syndromic gastroduodenal malformation","classifications":[147,156,182]}],"children":[{"orpha":391641,"name":"Feingold syndrome type 1","type":"Clinical subtype"},{"orpha":391646,"name":"Feingold syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"MIR17HG","name":"miR-17-92a-1 cluster host gene","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21892160[PMID]","hgnc":"23564","ensembl":"ENSG00000215417","omim":"609415","loci":["13q31.3"],"via":{"orpha":391646,"name":"Feingold syndrome type 2"}},{"symbol":"MYCN","name":"MYCN proto-oncogene, bHLH transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18470948[PMID]_15821734[PMID]_20301770[PMID]","hgnc":"7559","ensembl":"ENSG00000134323","omim":"164840","loci":["2p24.3"],"via":{"orpha":391641,"name":"Feingold syndrome type 1"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":123.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","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:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009468","label":"Deviation of the 2nd finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}