{"orpha":1837,"name":"Metaphyseal chondrodysplasia, Rosenberg type","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Rosenberg-Lohr syndrome"],"definition":"Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1837/","orphanet_url":"https://www.orpha.net/en/disease/detail/1837","names":{"fr":{"name":"Chondrodysplasie métaphysaire type Rosenberg","synonyms":["Syndrome de Rosenberg-Löhr"],"definition":"Une dysplasie osseuse primaire rare caractérisée par une dysplasie des métaphyses cubitales distales, ainsi qu'une dysplasie métacarpienne/métatarsienne, et des modifications métaphysaires évoquant une enchondromata. Les patients présentent habituellement un gonflement osseux au niveau des poignets, avec ou sans douleur (les genoux et les chevilles peuvent aussi être affectés). Les autres signes variables associés incluent une platyspondylie, un retard du développement squelettique, une petite taille et une coxa valga."},"de":{"name":"Chondrodysplasie, metaphysäre, Typ Rosenberg","synonyms":["Rosenberg-Lohr-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch Dysplasie der distalen Ulna-Metaphysen sowie Metakarpal-/Metatarsal-Dysplasie und metaphysäre Veränderungen, die Enchondromata ähneln, gekennzeichnet ist. Die Patienten zeigen in der Regel knöcherne Schwellungen an den Handgelenken mit oder ohne Schmerzen (Knie und Knöchel können ebenfalls betroffen sein). Andere variabel assoziierte Merkmale sind Platyspondylie, Verzögerung der Skelettentwicklung, Kleinwuchs und Coxa valga."},"es":{"name":"Condrodisplasia metafisaria tipo Rosenberg","synonyms":["Síndrome de Rosenberg-Lohr"],"definition":"La displasia metafisaria cubital es una displasia ósea primaria poco frecuente caracterizada por displasia de la metáfisis cubital distal, así como displasia metacarpiana/metatarsiana y cambios metafisarios similares a encondromas. Los afectados suelen presentar inflamación ósea de las muñecas con o sin dolor (las rodillas y los tobillos también pueden verse afectados). Otras características asociadas de forma variable incluyen platispondilia, retraso del desarrollo esquelético, baja estatura y coxa valga."},"it":{"name":"Condrodisplasia metafisaria tipo Rosenberg","synonyms":["Sindrome di Rosenberg-Lohr"],"definition":"La displasia metafisaria-dell'ulna è una displasia scheletrica primitiva rara, caratterizzata da displasia delle metafisi ulnari distali, displasia metacarpale/metatarsale e alterazioni metafisarie che simulano degli encondromi. Di solito i pazienti presentano rigonfiamento osseo a livello dei polsi, con o senza dolore (possono essere coinvolte anche le ginocchia e le caviglie). Altre caratteristiche associate sono la platispondilia, il ritardo dello sviluppo scheletrico, la bassa statura e la coxa valga."},"nl":{"name":"Metafysaire chondrodysplasie, Rosenberg-type","synonyms":["Syndroom van Rosenberg-Lohr"],"definition":"Ulna metafysair dysplasiesyndroom is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door dysplasie van de distale ulnaire metafysen, alsook dysplasie van metacarpalen/metatarsalen en metafysaire veranderingen die lijken op enchondromen. Patiënten vertonen meestal benige zwelling aan de polsen met of zonder pijn (knieën en enkels kunnen ook getroffen worden). Overige variabel geassocieerde kenmerken zijn onder meer platyspondylie, achterstand van de skeletontwikkeling, kleine gestalte en coxa valga."},"pt":{"name":"Condrodisplasia metafisária, tipo Rosenberg","synonyms":["Síndrome Rosenberg-Lohr"]},"pl":{"name":"Zespół dysplazji przynasadowej kości łokciowej","synonyms":["Zespół Rosenberga i Lohra","Chondodysplazja przynasadowa typu Rosenberga"]},"cs":{"name":"Syndrom ulnární metafyzární dysplázie","synonyms":["Rosenbergův-Lohrův syndrom","Rosenberg-Lohrův syndrom"]},"uk":{"name":"Метафізарна хондродисплазія, тип Розенберга","synonyms":["Синдром Розенберга-Лора"],"definition":"Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga."},"zh":{"name":"尺骨干骺端发育不良综合征","synonyms":["Rosenberg-Lohr综合征"]},"tr":{"name":"Ulna metafizeal displazi sendromu","synonyms":["Rosenberg-Lohr sendromu"]}},"xrefs":[{"source":"OMIM","code":"191420","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.7","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1343160916"},{"source":"MONDO","code":"0008619","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860615","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4740","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3732330[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3732330[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null}]}}