{"orpha":140917,"name":"Stapes ankylosis with broad thumbs and toes","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Teunissen-Cremers syndrome"],"definition":"Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140917/","orphanet_url":"https://www.orpha.net/en/disease/detail/140917","names":{"fr":{"name":"Ankylose de l'étrier avec pouces et orteils larges","synonyms":["Syndrome de Teunissen-Cremers"],"definition":"Maladie osseuse génétique très rare caractérisée par une ankylose de l'étrier, des pouces et des premiers orteils larges, une surdité de transmission et une hypermétropie."},"de":{"name":"Stapesankylose mit breiten Daumen und Zehen","definition":"Dieses Syndrom ist gekennzeichnet durch die Assoziation von angeborener Schalleitungs-Schwerhörigkeit bei Stapes-Ankylose, breiten Daumen und Großzehen sowie Hyperopie."},"es":{"name":"Anquilosis del estribo con pulgares y dedos de los pies anchos","synonyms":["Síndrome de Teunissen-Cremers"],"definition":"Es un trastorno óseo genético y muy poco frecuente caracterizado por anquilosis de estribos, pulgares y halluces anchos, hipoacusia conductiva e hipermetropía."},"it":{"name":"Anchilosi della staffa con pollici e dita dei piedi tozzi","definition":"L'anchilosi della staffa associata a pollici e dita dei piedi tozzi è una malattia scheletrica molto rara di origine genetica, caratterizzata da anchilosi della staffa, pollici e alluci tozzi, sordità di conduzione e iperopia."},"nl":{"name":"Stapes-ankylose met brede duimen en tenen","synonyms":["Syndroom van Teunissen-Cremers"],"definition":"Stapes-ankylose met brede duimen en tenen is een zeer zeldzame, genetische botstoornis die gekarakteriseerd wordt door ankylose van de stijgbeugel (stapes), brede duimen en halluces, conductief gehoorverlies en hyperopie."},"pt":{"name":"Anquilose do estribo com polegares e dedos dos pés largos","definition":"Este síndrome é caracterizado pela associação de surdez condutiva congénita devido à anquilose do estribo, alargamento dos polegares e dedos dos pés e hiperopia."},"pl":{"name":"Ankyloza strzemiączka z szerokimi kciukami i palcami stóp","synonyms":["Zespół Teunissena i Cremersa"]},"cs":{"name":"Ankylóza třmínku s širokými palci a prsty","synonyms":["Teunissenův-Cremersův syndrom","Teunissen-Cremersův syndrom"]},"uk":{"name":"Анкілоз пальців стопи з широкими великими і середніми пальцями","synonyms":["Синдром Теуніссена-Кремерса"],"definition":"Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia."},"zh":{"name":"拇指和脚趾镫骨关节强直症","synonyms":["Teunissen-Cremers综合征"],"definition":"镫骨僵硬伴拇指和脚趾宽大是一种非常罕见的遗传性骨病，其特征是镫骨强直、拇指（趾）宽大、传导性听力丧失和远视。"},"tr":{"name":"Geniş başparmak ve ayak parmaklı stapes ankilozu","synonyms":["Teunissen-Cremers sendromu"]}},"xrefs":[{"source":"OMIM","code":"184460","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":"index","validated":true,"icd11_uri":"387089262"},{"source":"MONDO","code":"0008484","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866656","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"NOG","name":"noggin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12089654[PMID]","hgnc":"7866","ensembl":"ENSG00000183691","omim":"602991","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"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":null}