{"orpha":391646,"name":"Feingold syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Brachydactyly-short stature-microcephaly syndrome","Brunner-Winter syndrome type 2","FGLDS2","FS2","MMT type 2","Microcephaly-digital anomalies-normal intelligence syndrome type 2","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2"],"definition":"A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391646/","orphanet_url":"https://www.orpha.net/en/disease/detail/391646","names":{"fr":{"name":"Syndrome de Feingold type 2","synonyms":["FGLDS2","FS2","MMT type 2","Syndrome de Brunner-Winter type 2","Syndrome de brachydactylie-petite taille-microcéphalie","Syndrome de microcéphalie-anomalies digitales-intelligence normale type 2","Syndrome de microcéphalie-déficience intellectuelle-fistule trachéo-oesophagienne type 2"],"definition":"Syndrome malformatif congénital rare d'origine génétique caractérisé par une microcéphalie, une petite taille, des anomalies digitales (brachymésophalangie, clinodactylie du cinquième doigt, syndactylie des orteils et hypoplasie du pouce) et une légère déficience intellectuelle, mais excluant l'atrésie gastro-intestinale."},"de":{"name":"Feingold-Syndrom Typ 2","synonyms":["Brachydaktylie-Kleinwuchs-Mikrozephalie-Syndrom","Brunner-Winter-Syndrom Typ 2","FGLDS2","FS2","MMT Typ 2","Mikrozephalie mit Fingeranomalien und normaler Intelligenz Typ 2","Mikrozephalie-Intelligenzminderung-Tracheo-Ösophageale Fistel-Syndrom Typ 2"],"definition":"Das Feingold-Syndrom Typ 2 (FS2) ist ein erbliches Fehlbildungssyndrom, das durch Mikrozephalie, Kleinwuchs, Finger- und Zehenanomalien (Brachymesophalangie, Klinodaktylie des fünften Fingers, Syndaktylie der Zehen und hypoplastische Daumen) und leichte Intelligenzminderungen gekennzeichnet ist, bei dem jedoch (im Gegensatz zu FS1) keine gastrointestinale Atresie auftritt."},"es":{"name":"Síndrome de Feingold tipo 2","synonyms":["FGLDS2","FS2","MMT tipo 2","Síndrome de Brunner-Winter tipo 2","Síndrome de braquidactilia-talla baja-microcefalia","Síndrome de microcefalia-anomalías digitales-inteligencia normal tipo 2","Síndrome de microcefalia-discapacidad intelectual-fístula traqueoesofágica tipo 2"],"definition":"Es un síndrome malformativo congénito de origen genético poco frecuente que se caracteriza por microcefalia, talla baja, anomalías digitales (braquimesofalangia, clinodactilia del quinto dedo de la mano, sindactilia de los dedos de los pies y pulgares hipoplásicos) y discapacidad intelectual leve en ausencia de atresia gastrointestinal."},"it":{"name":"Sindrome di Feingold tipo 2","synonyms":["FGLDS2","FS2","MMT, tipo 2","Sindrome brachidattilia-bassa statura-microcefalia","Sindrome di Brunner-Winter, tipo 2","Sindrome microcefalia-anomalie digitali-intelligenza normale, tipo 2","Sindrome microcefalia-deficit cognitivo-fistola tracheoesofagea, tipo 2"],"definition":"La sindrome di Feingold tipo 2 (FS2) è una malattia genetica rara da malformazioni congenite, caratterizzata da microcefalia, bassa statura, anomalie delle dita (brachimesofalangia, clinodattilia del quinto dito della mano, sindattilia delle dita dei piedi e ipoplasia del pollice) e disabilità intellettiva lieve, in assenza di atresia gastrointestinale."},"nl":{"name":"Syndroom van Feingold type 2","synonyms":["Brachydactylie - kleine gestalte - microcefalie-syndroom","FGLDS2","FS2","MMT type 2","Microcefalie - digitale anomalieën - normale intelligentie-syndroom type 2","Microcefalie - intellectuele achterstand - tracheo-oesofageale fistel-syndroom type 2","Syndroom van Brunner-Winter type 2"],"definition":"Een zeldzaam, genetisch congenitaal malformatiesyndroom, gekarakteriseerd door microcefalie, kleine gestalte, digitale anomalieen (brachymesofalangie, clinodactylie van vijfde vinger, syndactylie van tenen, en hypoplastische duimen), en milde intellectuele achterstand, maar zonder manifestaties van gastro-intestinale atresie."},"pt":{"name":"Síndrome de Feingold, tipo 2"},"pl":{"name":"Zespół Feingolda typu 2","synonyms":["FGLDS2","FS2","MMT typu 2","Zespół brachydaktylia-niski wzrost-małogłowie","Zespół Brunnera i Wintera typu 2","Zespół małogłowie - niepełnosprawność intelektualna - szczelina tchawiczo-przełykowa typu 2","Zespół małogłowie-anomalie palców-prawidłowy rozwój intelektualny typu 2"]},"cs":{"name":"Feingoldův syndrom, typ 2","synonyms":["FGLDS2","FS2","MMT typ 2","Syndrom zahrnující brachydaktylii, malý vzrůst a mikrocefalii","Brunnerův-Winterův syndrom, typ 2","Syndrom zahrnující mikrocefalii, anomálie prstů a normální inteligenci, typ 2","Syndrom zahrnující mikrocefalii, mentální retardaci a tracheoesofageální píštěl, typ 2","Brunner-Winterův syndrom, typ 2"]},"uk":{"name":"Синдром Файнгольда, тип 2","synonyms":["Синдром брахідактилії - низького зросту-мікроцефалії","Синдром Бруннера-Вінтерна, тип 2","FGLDS2","FS2","Синдром мікроцефалії-пальцевих аномалій- нормального інтелекту, тип 2","Мікроцефалія-інтелектуальна недостатність-трахеоезофагеальна нориця, тип 2","ММТ, тип 2"],"definition":"A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia."},"zh":{"name":"Feingold综合征2型","synonyms":["小头畸形-智力障碍-气管食管瘘2型"],"definition":"法因戈尔德综合征2型(FS2)是一种罕见的遗传性畸形综合征，其特征是骨骼异常和轻度智力障碍，与法因戈尔德综合征1型类似(FS1；见本术语)，但缺少胃肠道闭锁和短睑裂的表现。"},"tr":{"name":"Feingold sendromu tip 2","synonyms":["FS2","FGLDS2","MMT tip 2","Brunner-Winter sendromu tip 2","Brakidaktili-kısa boy-mikrosefali sendromu","Mikrosefali-dijital anomaliler-normal zeka sendromu tip 2","Mikrosefali-zihinsel yetersizlik-trakeoözofajeal fistül sendromu tip 2"]}},"xrefs":[{"source":"OMIM","code":"614326","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":"0013691","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280489","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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"28159702[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28159702[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-22","source":"21892160[PMID]_25391829[PMID]","terms":[{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","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:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005235","label":"Jejunal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}