{"orpha":3383,"name":"Humerus trochlea hypoplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3383/","orphanet_url":"https://www.orpha.net/en/disease/detail/3383","names":{"fr":{"name":"Hypoplasie de la trochlée de l'humérus","definition":"Déformation osseuse familiale extrêmement rare décrite uniquement chez des patients japonais à ce jour. La déformation est bilatérale chez près de la moitié des patients (en cas d'atteinte bilatérale, la maladie est dite symétrique) et cause parfois une paralysie du nerf cubital ou un cubitus varus."},"de":{"name":"Trochlea humeri-Hypoplasie","definition":"Eine äußerst seltene familiäre Knochenfehlbildung, die bisher nur bei japanischen Patienten beschrieben wurde. Die Fehlbildung ist bei fast der Hälfte der Patienten bilateral (bei beidseitiger Beteiligung ist die Erkrankung symmetrisch) und führt manchmal zu einer Lähmung des Ellennervs oder einer Varusstellung des Ellenbogens."},"es":{"name":"Hipoplasia de la tróclea del húmero","definition":"Es una deformidad ósea familiar extremadamente poco frecuente, descrita sólo en pacientes japoneses hasta la fecha. La deformidad es bilateral en casi la mitad de los pacientes (con afectación bilateral, la enfermedad es simétrica) y a veces causa parálisis del nervio cubital o cúbito varo."},"it":{"name":"Ipoplasia della troclea dell'omero","definition":"L'aplasia della troclea dell'omero è una deformità ossea familiare, estremamente rara, descritta finora solo in pazienti giapponesi. La deformità è bilaterale in quasi la metà dei pazienti (con coinvolgimento bilaterale, la condizione è simmetrica) e a volte causa la paralisi del nervo ulnare o il gomito varo."},"nl":{"name":"Hypoplasie van trochlea humeri","synonyms":["Hypoplasie van trochlea van humerus"],"definition":"Een uiterst zeldzame familiale deformiteit van bot, tot op heden enkel beschreven bij Japanse patiënten. De deformiteit is bilateraal bij nagenoeg de helft van de patiënten (met bilaterale betrokkenheid is de aandoening symmetrisch), en veroorzaakt soms verlamming van nervus ulnaris, of cubitus varus."},"pt":{"name":"Aplasia da tróclea do úmero"},"pl":{"name":"Aplazja bloczka kości ramiennej"},"cs":{"name":"Aplázie trochley pažní kosti"},"uk":{"name":"Аплазія виростків плечової кістки","definition":"An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus."},"zh":{"name":"肱骨滑车发育不良"},"tr":{"name":"Humerus troklea aplazisi"}},"xrefs":[{"source":"OMIM","code":"191000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008611","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566022","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860773","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2750","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"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}