{"orpha":2957,"name":"Guttmacher syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Preaxial deficiency-postaxial polydactyly-hypospadias syndrome"],"definition":"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2957/","orphanet_url":"https://www.orpha.net/en/disease/detail/2957","names":{"fr":{"name":"Syndrome de Guttmacher","synonyms":["Syndrome de déficit préaxial-polydactylie postaxiale-hypospadias"],"definition":"Le syndrome de Guttmacher est un syndrome extrêmement rare associant une hypoplasie des pouces et gros orteils, une clinobrachydactylie du 5e doigt, une polydactylie postaxiale des mains, des 2e orteils courts ou uniphalangés dépourvus d'ongles et un hypospadias."},"de":{"name":"Guttmacher-Syndrom","synonyms":["Fehlbildung, präaxiale - postaxiale Polydaktylie - Hypospadie"],"definition":"Das Guttmacher-Syndrom ist extrem selten und gekennzeichnet durch hypoplastische Daumen und Großzehen, Klinobrachydaktylie der Kleinfinger, postaxiale Polydaktylie der Hände, kurze oder uni-phalangeale, nagellose zweite Zehen und Hypospadie."},"es":{"name":"Síndrome de Guttmacher","synonyms":["Deficiencia preaxial-polidactilia postaxial-hipospadias"],"definition":"El síndrome de Guttmacher es un síndrome extremadamente raro caracterizado por pulgar y hallux hipoplásicos, clinobraquidactilia del quinto dedo, polidactilia postaxial de manos, segundos dedos de los pies cortos o con una única falange, con uñas ausentes e hipospadias."},"it":{"name":"Sindrome di Guttmacher","synonyms":["Difetto preassiale - polidattilia postassiale - ipospadia"]},"nl":{"name":"Syndroom van Guttmacher","synonyms":["Preaxiale deficiëntie - postaxiale polydactylie - hypospadie-syndroom"],"definition":"Een uiterst zeldzaam syndroom, gekenmerkt door hypoplastische duimen en halluces, clinobrachydactylie van 5de vinger, postaxiale polydactylie van handen, korte of unifalangeale 2de tenen met afwezige nagels en hypospadie."},"pt":{"name":"Síndrome Guttmacher","synonyms":["Síndrome de anomalia pré-axial-polidactilia pós-axial-hipospadias"],"definition":"A síndrome de Guttmacher é uma síndrome extremamente rara caracterizada por polegares e hálux hipoplásicos, clinobraquidactilia do quinto dedo, polidactilia pós-axial das mãos, 2os dedos dos pés curtos ou unifalangeais com unhas ausentes e hipospadias."},"pl":{"name":"Zespół Guttmachera","synonyms":["Deficyt przedosiowy - polidaktylia pozaosiowa - spodziectwo"]},"cs":{"name":"Guttmacherův syndrom","synonyms":["Syndrom zahrnující preaxiální ztrátové vady končetin, postaxiální polydaktylii a hypospadii"]},"uk":{"name":"Синдром Гутмахера","synonyms":["Синдром преаксіального дефіциту- постаксіальної полідактилії-гіпоспадії"],"definition":"Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias."},"zh":{"name":"Gttmacher综合征","synonyms":["轴前缺失-轴后多指-尿道下裂综合征"]},"tr":{"name":"Guttmacher sendromu","synonyms":["preaksiyel eksiklik-aksiyal polidaktili-hipospadias sendromu"]}},"xrefs":[{"source":"OMIM","code":"176305","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2007432445"},{"source":"MONDO","code":"0008301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538278","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867801","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4470","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"HOXA13","name":"homeobox A13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11968094[PMID]","hgnc":"5102","ensembl":"ENSG00000106031","omim":"142959","loci":["7p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8484413[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8484413[PMID]"}],"phenotypes":null}