{"orpha":2760,"name":"OSLAM syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome"],"definition":"A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2760/","orphanet_url":"https://www.orpha.net/en/disease/detail/2760","names":{"fr":{"name":"Syndrome OSLAM","synonyms":["Syndrome d'ostéosarcome-anomalies des membres-macrocytose érythroïde"],"definition":"Maladie génétique rare caractérisée par l'association d'un ostéosarcome avec malformations des membres (telles qu'une synostose radio-ulnaire bilatérale et une clinodactylie, ainsi que d'autres anomalies des mains et des pieds) et d'une macrocytose sans anémie. Aucun cas n'a été décrit dans la littérature depuis 1977."},"de":{"name":"OSLAM-Syndrom","definition":"Ein seltenes Syndrom, das durch die Assoziation eines Osteosarkoms mit Gliedmaßenanomalien (wie beidseitige Radioulnarsynostose und Klinodaktylie sowie andere Anomalien an Händen und Füßen) und erythroider Makrozytose ohne Anämie gekennzeichnet ist. Seit 1977 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome OSLAM","synonyms":["Osteosarcoma-anomalías de las extremidades-macrocitosis eritroide"],"definition":"Es una enfermedad genética poco frecuente que se caracteriza por la asociación de osteosarcoma con anomalías de las extremidades (como sinostosis radioulnar bilateral y clinodactilia, así como otras anomalías de las manos y los pies) y macrocitosis eritroide sin anemia. No ha habido más descripciones en la literatura desde 1977."},"it":{"name":"Sindrome OSLAM","synonyms":["Osteosarcoma - anomalie degli arti - macrocitosi eritrocitaria"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da osteosarcoma, anomalie degli arti (sinostosi radioulnare bilaterale, clinodattilia e altre anomalie delle mani e dei piedi) e macrocitosi eritroide senza anemia. Non sono stati descritti nuovi casi dopo il 1977."},"nl":{"name":"OSLAM-syndroom","synonyms":["Osteosarcoom - ledemaatanomalieën - erytroïde macrocytose-syndroom"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door de associatie van osteosarcoom met ledemaatanomalieën (zoals bilaterale radio-ulnaire synostose en clinodactylie, alsook andere afwijkingen van handen en voeten) en erytroïde macrocytose zonder anemie. Sinds 1977 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome OSLAM","synonyms":["Síndrome osteossarcoma-anomalias dos membros-macrocitose eritróide"]},"pl":{"name":"Zespół OSLAM","synonyms":["Kostniakomięsak - wady kończyn - makrocytoza krwinek czerwonych"]},"cs":{"name":"OSLAM syndrom","synonyms":["Syndrom zahrnující osteosarkom, anomálie koncetin a erytroidní makrocyty","Syndrom zahrnující osteosarkom, anomálie končetin a erytroidní makrocyty"]},"uk":{"name":"Синдром OSLAM","synonyms":["Синдром остеосаркоми - аномалії кінцівок - еритроїдного макроцитозу"],"definition":"A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977."},"zh":{"name":"OSLAM综合征","synonyms":["骨肉瘤-肢体异常-大红细胞综合征"]},"tr":{"name":"OSLAM sendromu","synonyms":["Osteosarkom-ekstremite anomalileri-eritroid makrositoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"165660","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C41.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008139","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833792","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4129","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183527,"name":"Genetic bone tumor","classifications":[156]},{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"201363[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_201363[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002669","label":"Osteosarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null}]}}