{"orpha":459051,"name":"Spondyloepiphyseal dysplasia, Stanescu type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SED, Stanescu type"],"definition":"A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-459051/","orphanet_url":"https://www.orpha.net/en/disease/detail/459051","names":{"fr":{"name":"Dysplasie spondyloépiphysaire type Stanescu","synonyms":["SED type Stanescu"],"definition":"Dysplasie spondyloépiphysaire rare caractérisée par des contractures articulaires progressives, accompagnées d'une maladie articulaire dégénérative précoce, affectant notamment le genou, la hanche et les doigts. Les patients sont de taille normale, mais présentent des troubles de la marche, des douleurs articulaires, une hypertrophie des articulations accompagnée de contractures et d'une mobilité articulaire limitée. Les clichés radiologiques mettent en évidence une platyspondylie généralisée, une hypoplasie de l'os iliaque, des os tubulaires aux épiphyses aplaties et aux métaphyses écartées, et de larges cols fémoraux allongés avec une coxa valga marquée. L'examen histopathologique du cartilage révèle des inclusions cytoplasmiques, positives à la coloration PAS, dans les chondrocytes."},"de":{"name":"Dysplasie, spondyloepiphysäre, Typ Stanescu","synonyms":["SED, vom Typ Stanescu"],"definition":"Eine seltene Form der spondyloepiphysären Dysplasie, die durch fortschreitende Gelenkkontrakturen mit frühzeitiger degenerativer Gelenkerkrankung, insbesondere der Knie-, Hüft- und Fingergelenke, gekennzeichnet ist. Die Patienten sind normal groß und haben Probleme beim Gehen, Gelenkschmerzen und vergrößerte Gelenke mit Gelenkeinschränkungen und -kontrakturen. Zu den radiologischen Merkmalen gehören eine generalisierte Platyspondylie, ein hypoplastisches Os ilium, eine epiphysäre Abflachung mit metaphysärer Spreizung der Röhrenknochen und breite, verlängerte Schenkelhälse mit ausgeprägter Coxa valga. Die histopathologische Untersuchung des Knorpels zeigt PAS-positive zytoplasmatische Einschlusskörperchen in den Chondrozyten."},"es":{"name":"Displasia espondiloepifisaria tipo Stanescu","synonyms":["DEE tipo Stanescu"],"definition":"Es una displasia espondiloepifisaria poco frecuente caracterizada por contracturas articulares progresivas acompañadas de enfermedad articular degenerativa precoz, especialmente de las articulaciones de la rodilla, la cadera y los dedos de las manos. Los pacientes alcanzan una talla normal y se presentan con trastornos de la marcha, dolor y agrandamiento articular con restricción y contracturas articulares. Los hallazgos radiológicos incluyen platispondilia generalizada, hipoplasia de las alas ilíacas, aplanamiento epifisario con extensión metafisaria de los huesos tubulares y cuellos femorales anchos y alargados con marcada coxa valga. El examen histopatológico del cartílago muestra cuerpos de inclusión citoplasmáticos PAS positivo en los condrocitos."},"it":{"name":"Displasia spondiloepifisaria, tipo Stanescu","definition":"Si tratta di una displasia spondiloepifisaria rara, caratterizzata da contratture articolari progressive associate alla degenerazione precoce delle articolazioni, che interessa soprattutto le ginocchia, le anche e le dita. La statura è normale. I pazienti presentano anomalie dell'andatura, dolore articolare e allargamento delle articolazioni con limitazione del movimento e contratture articolari. Le radiografie evidenziano platispondilia generalizzata, ilei ipoplastici, appiattimento delle epifisi con svasamento delle metafisi delle ossa tubulari, e collo del femore largo e allungato con coxa valga marcata. L'esame istopatologico della cartilagine evidenzia corpi inclusi citoplasmatici PAS-positivi nei condrociti."},"nl":{"name":"Spondylo-epifysaire dysplasie, Stanescu type","synonyms":["SED, Stanescu type"],"definition":"Een zeldzame spondylo-epifysaire dysplasie, gekarakteriseerd door progressieve gewrichtscontracturen met premature degeneratieve gewrichtsaandoening, vooral van knie-, heup- en vingergewrichten. Patiënten hebben een normale lichaamslengte en vertonen loopstoornissen, gewrichtspijn, en vergrote gewrichten met beperking van gewrichtsbeweging en contracturen. Radiologische kenmerken zijn onder meer gegeneraliseerde platyspondylie, hypoplastische darmbeenderen, afvlakking van epifysen met verbreding van metafysen van pijpbeenderen, en brede en lange femurhalzen met aanzienlijke coxa valga. Histopathologisch onderzoek van kraakbeen toont PAS-positieve cytoplasmatische inclusielichaampjes in chondrocyten."},"pt":{"name":"Displasia espondiloepifisária, tipo Stanescu"},"pl":{"name":"Dysplazja kręgowo-nasadowa, typ Stanescu","synonyms":["SED, typ Stanescu"]},"cs":{"name":"Spondyloepifyzární dysplázie, typ Stanescuových","synonyms":["SED, typ Stanescu"]},"uk":{"name":"Спондилоепіфізарна дисплазія, тип Станеску","synonyms":["SED, тип Stanescu"],"definition":"A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes."},"zh":{"name":"脊柱骨骺发育不良，斯特内斯库型","synonyms":["斯特内斯库型SED"]},"tr":{"name":"Spondiloepifiz displazi, Stanescu tipi","synonyms":["SED, Stanescu tipi"]}},"xrefs":[{"source":"OMIM","code":"616583","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014701","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225273","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26183434[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"6430256[PMID]_26183434[PMID]_9592900[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6430256[PMID]_26183434[PMID]_9592900[PMID]"}],"phenotypes":null}