{"orpha":391641,"name":"Feingold syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Brunner-Winter syndrome type 1","Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1","FGLDS1","FS1","MMT type 1","MODED syndrome type 1","Microcephaly-digital anomalies-normal intelligence syndrome type 1","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1","Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1","ODED syndrome type 1","Oculo-digito-esophageal-duodenal syndrome type 1"],"definition":"A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391641/","orphanet_url":"https://www.orpha.net/en/disease/detail/391641","names":{"fr":{"name":"Syndrome de Feingold type 1","synonyms":["FGLDS1","FS1","MODED type 1","Syndrome ODED type 1","Syndrome d'anomalies digitales-fentes palpébrales courtes-atrésie oesophagienne ou duodénale type 1","Syndrome de Brunner-Winter type 1","Syndrome de microcéphalie-anomalies digitales-intelligence normale type 1","Syndrome de microcéphalie-déficience intellectuelle-fistule trachéo-oesophagienne type 1","Syndrome de microcéphalie-syndrome oculo-digito-oesophago-duodénal type 1","Syndrome oculo-digito-oesophago-duodénal type 1"],"definition":"Syndrome malformatif congénital rare d'origine génétique, caractérisé par des anomalies digitales (raccourcissement des 2e et 5e phalanges moyennes de la main, clinodactylie du 5e doigt, syndactylie des orteils 2 et 3 et/ou 4 et 5, hypoplasie du pouce), une microcéphalie, une dysmorphie faciale (fentes palpébrales courtes et micrognathie), une atrésie gastro-intestinale (principalement oesophagienne et/ou duodénale) et des troubles de l'apprentissage légers à modérés."},"de":{"name":"Feingold-Syndrom Typ 1","synonyms":["Brunner-Winter-Syndrom Typ 1","FGLDS1","FS1","Fingeranomalien mit kurzen Lidspalten und Ösophagus- oder Duodenalatresie Typ 1","MMT Typ 1","MODED-Syndrom Typ 1","Mikrozephalie mit Fingeranomalien und normaler Intelligenz Typ 1","Mikrozephalie-Intelligenzminderung-Tracheo-Ösophageale Fistel-Syndrom Typ 1","Mikrozephalie-okulo-digito-oesophago-duodenal-Syndrom Typ 1","ODED-Syndrom Typ 1","Okulo-Digito-Oesophago-Duodenal-Syndrom Typ 1"],"definition":"Ein genetisch bedingtes Dysmorphiesyndrom, das durch Anomalien der Finger (Verkürzung des 2. und 5. Mittelhandknochens, Klinodaktylie des 5. Fingers, Syndaktylie der Zehen 2-3 und/oder 4-5, Daumenhypoplasie), Mikrozephalie, Gesichtsdysmorphien (kurze Lidspalten und Mikrognathie), gastrointestinale Atresie (hauptsächlich Ösophagus und/oder Duodenum) und eine leichte bis mittelschwere Lernbehinderung gekennzeichnet ist."},"es":{"name":"Síndrome de Feingold tipo 1","synonyms":["Anomalías digitales con fisuras palpebrales cortas y atresia esófagica o duodenal tipo 1","FGLDS1","FS1","MMT tipo 1","Síndrome MODED tipo 1","Síndrome ODED tipo 1","Síndrome de Brunner-Winter tipo 1","Síndrome de microcefalia-anomalías digitales-inteligencia normal tipo 1","Síndrome de microcefalia-discapacidad intelectual-fístula traqueoesofágica tipo 1","Síndrome de microcefalia-síndrome óculo-dígito-esofágico-duodenal tipo 1","Síndrome óculo-dígito-esofágico-duodenal tipo 1"],"definition":"Es un síndrome malformativo congénito de origen genético poco frecuente caracterizado por anomalías digitales (acortamiento de la 2ª y 5ª falange media de la mano, clinodactilia del 5º dedo de la mano, sindactilia de los dedos 2-3 y/o 4-5 de los pies, hipoplasia del pulgar), microcefalia, dismorfia facial (fisuras palpebrales cortas y micrognatia), atresia gastrointestinal (principalmente esofágica y/o duodenal) y problemas de aprendizaje de leves a moderados."},"it":{"name":"Sindrome di Feingold tipo 1","synonyms":["Anomalie digitali con rime palpebrali corte e atresia dell'esofago o del duodeno, tipo 1","FGLDS1","FS1","MMT, tipo 1","Sindrome MODED, tipo 1","Sindrome ODED, tipo 1","Sindrome di Brunner-Winter, tipo 1","Sindrome microcefalia-anomalie digitali-intelligenza normale, tipo 1","Sindrome microcefalia-disabilità cognitiva-fistola tracheoesofagea, tipo 1","Sindrome microcefalia-oculo-digito-esofageo-duodenale, tipo 1","Sindrome oculo-digito-esofageo-duodenale, tipo 1"],"definition":"La sindrome di Feingold tipo 1 (FS1) è una malattia genetica rara da malformazioni congenite, caratterizzata da anomalie delle dita (accorciamento della seconda e quinta falange media della mano, clinodattilia del quinto dito della mano, sindattilia del secondo e terzo e/o del quarto e quinto dito del piede, ipoplasia del pollice), microcefalia, dismorfismi facciali (rime palpebrali corte e micrognazia), atresia gastrointestinale (prevalentemente esofagea e/o duodenale) e difficoltà di apprendimento lieve-moderata."},"nl":{"name":"Syndroom van Feingold type 1","synonyms":["Digitale anomalieën met korte ooglidspleten en atresie van slokdarm of duodenum type 1","FGLDS1","FS1","MMT type 1","MODED-syndroom type 1","Microcefalie - digitale anomalieën - normale intelligentie-syndroom type 1","Microcefalie - intellectuele achterstand - tracheo-oesofageale fistel-syndroom type 1","Microcefalie - oculo-digito-oesofageaal-duodenaal syndroom type 1","ODED-syndroom type 1","Oculo-digito-oesofageaal-duodenaal syndroom type 1","Syndroom van Brunner-Winter type 1"],"definition":"Een zeldzaam, genetisch congenitaal malformatiesyndroom, gekarakteriseerd door digitale anomalieen (abnormaal korte 2de en 5de middelste falanx van hand, clinodactylie van 5de vinger, syndactylie van tenen 2-3 en/of 4-5, hypoplasie van duim), microcefalie, faciale dysmorfie (korte ooglidspleten en micrognathie), gastro-intestinale atresie (vooral van oesofagus en/of duodenum), en milde tot matige leerstoornis."},"pt":{"name":"Síndrome de Feingold, tipo 1"},"pl":{"name":"Zespół Feingolda typu 1","synonyms":["Anomalie palców z krótkimi szparami powiekowymi i atrezją przełyku lub dwunastnicy typu 1","FGLDS1","FS1","Małogłowie - niepełnosprawność intelektualna - szczelina tchawiczo-przełykowa typu 1","Małogłowie - zespół oczno-palcowo-przełykowo-dwunastniczy typu 1","Małogłowie-anomalie palców-normalna inteligencja typu 1","MMT typu 1","Zespół Brunnera i Wintera typu 1","Zespół MODED typu 1","Zespół oczno-palcowo-przełykowo-dwunastniczy typu 1","Zespół ODED typu 1"]},"cs":{"name":"Feingoldův syndrom, typ 1","synonyms":["FGLDS1","FS1","MMT typ 1","MODED syndrom, typ 1","Mikrocefalie a okulo-digito-esofago-duodenální syndrom, typ 1","ODED syndrom, typ 1","Okulo-digito-esofago-duodenální syndrom, typ 1","Brunnerův-Winterův syndrom, typ 1","Anomálie prstů s krátkými očními štěrbinami a atrézií jícnu nebo duodena, typ 1","Syndrom zahrnující mikrocefalii, anomálie prstů a normální inteligenci, typ 1","Syndrom zahrnující mikrocefalii, mentální retardaci a tracheoesofageální píštěl, typ 1","Brunner-Winterův syndrom, typ 1"]},"uk":{"name":"Синдром Файнгольда, тип 1","synonyms":["Синдром Бруннера-Вінтерна, тип 1","Дигітальні аномалії з короткими пальцевими щілинами та атрезією стравоходу або дванадцятипалої кишки типу 1","FGLDS1","FS1","Синдром мікроцефалії-пальцевих аномалій- нормального інтелекту, тип 1","Мікроцефалія-інтелектуальна недостатність-трахеоезофагеальна нориця, тип 1","Синдром мікроцефалії-окуло-дигіто-стравохідно-дуоденальний синдром, тип 1","MMT тип 1","Синдром MODED, тип 1","Окуло-дигіто-стравохідно-дуоденальний синдром, тип 1","Синдром ODED тип 1"],"definition":"A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability."},"zh":{"name":"Feingold综合征1型","synonyms":["手指畸形伴睑裂短和食管或十二指肠闭锁1型"],"definition":"法因戈尔德综合征1型(FS1)是一种罕见的遗传性畸形综合征，其特征是小头畸形、身材矮小和多个手指畸形。"},"tr":{"name":"Feingold sendromu tip 1","synonyms":["FS1","FGLDS1","MMT tip 1","ODED sendromu tip 1","MODED sendromu tip 1","Brunner-Winter sendromu tip 1","Okülo-dijito-özofageal-duodenal sendrom tip 1","Mikrosefali-dijital anomaliler-normal zeka sendromu tip 1","Mikrosefali-okülo-dijito-özofageal-duodenal sendrom sendromu tip 1","Mikrosefali-zihinsel yetersizlik-trakeözofageal fistül sendromu tip 1","Özofagus ve duodenum tip 1 atrezisi ve kısa palpebral fissürler ile seyreden dijital anomaliler"]}},"xrefs":[{"source":"OMIM","code":"164280","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":"0008115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551774","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1305,"name":"Feingold syndrome","classifications":[147,156,181,182,199,233]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":120.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2020-09-22","source":"20301770[PMID]","terms":[{"hpo":"HP:0002589","label":"Gastrointestinal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005819","label":"Short middle phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004692","label":"4-5 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009577","label":"Short middle phalanx of the 2nd finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004220","label":"Short middle phalanx of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011625","label":"Multiple muscular ventricular septal defects","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011662","label":"Tricuspid atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010446","label":"Tricuspid stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005235","label":"Jejunal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null}]}}