{"orpha":3466,"name":"WT limb-blood syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3466/","orphanet_url":"https://www.orpha.net/en/disease/detail/3466","names":{"fr":{"name":"Syndrome WT membres-sang","definition":"Aplasie médullaire constitutionnelle rare caractérisée par une anémie hypoplasique/aplasique sévère ou une pancytopénie associée à des anomalies squelettiques (malformations radiales/ulnaires et anomalies des mains/digits) et par un risque accru de leucémie. Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"WT-Gliedmaßen-Blut-Syndrom","definition":"Eine seltene konstitutionelle aplastische Anämie, die durch eine schwere hypo-/aplastische Anämie oder Panzytopenie in Verbindung mit Skelettanomalien (z. B. radiale/ulnare Defekte und Hand-/Fingeranomalien) und einem erhöhten Leukämierisiko gekennzeichnet ist. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome WT extremidades-sangre","definition":"Es una anemia aplásica constitucional poco frecuente caracterizada por grave anemia hipo/aplásica o pancitopenia asociada a anomalías esqueléticas (tales como defectos radio/cubitales y de las manos/dedos) y un mayor riesgo de desarrollar leucemia. No ha habido más casos descritos en la literatura desde 1995."},"it":{"name":"Sindrome WT arti-sangue","definition":"È un'anemia aplastica costituzionale rara, caratterizzata da anemia ipoplastica/aplastica grave o pancitopenia, associata ad anomalie scheletriche (difetti dell'ulna/radio e anomalie delle mani/dita) e ad aumento del rischio di leucemia. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"WT bloedsyndroom van ledematen","definition":"Een zeldzame, constitutionele aplastische anemie gekarakteriseerd door ernstige hypo-/aplastische anemie of pancytopenie geassocieerd met skeletanomalieën (zoals radiale/ulnaire defecten en afwijkingen van de handen/vingers) en een verhoogd risico op leukemie. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome WT membros-sangue"},"pl":{"name":"Zespół WT kończyn i krwi"},"cs":{"name":"WT syndrom"},"uk":{"name":"Синдром аномалії кінцівок-гематологічних порушень WT","definition":"A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995."},"zh":{"name":"WT肢-血液综合征"},"tr":{"name":"WT ekstremite-kan sendromu"}},"xrefs":[{"source":"OMIM","code":"194350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A70.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1407849410"},{"source":"MONDO","code":"0008688","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1327917","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"39","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":68383,"name":"Rare constitutional aplastic anemia","classifications":[156,194,233]},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"890097[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_890097[PMID]"}],"phenotypes":null}