{"orpha":166119,"name":"Isolated osteopoikilosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166119/","orphanet_url":"https://www.orpha.net/en/disease/detail/166119","names":{"fr":{"name":"Ostéopoecilie isolée","synonyms":["Ostéopoïkilose isolée"],"definition":"Dysplasie osseuse primaire rare caractérisée par de multiples petits foyers ostéosclérotiques de forme ronde à ovoïde avec une prédilection pour les épiphyses et les métaphyses des os longs tubulaires ainsi que pour le bassin, l'omoplate, les os du carpe et du tarse. La maladie est généralement cliniquement silencieuse et sa découverte n'est que fortuite, bien que certains patients puissent ressentir une légère douleur articulaire avec ou sans épanchement articulaire. La résistance osseuse est normale."},"de":{"name":"Osteopoikilose, isolierte","definition":"Eine seltene primäre Knochendysplasie, die durch multiple, kleine, runde bis eiförmige osteosklerotische Herde gekennzeichnet ist, die bevorzugt an den Epiphysen und Metaphysen der langen Röhrenknochen sowie des Beckens, des Schulterblatts, der Handwurzelknochen und der Fußwurzelknochen auftreten. Die Erkrankung ist in der Regel klinisch unauffällig und wird nur zufällig entdeckt, obwohl bei einigen Patienten leichte Gelenkschmerzen mit oder ohne Gelenkerguss auftreten können. Die Knochenfestigkeit ist normal."},"es":{"name":"Osteopoiquilosis aislada","definition":"Es una displasia ósea primaria poco frecuente caracterizada por focos osteoscleróticos múltiples, pequeños, redondos u ovoides, con predilección por las epífisis y metáfisis de los huesos tubulares largos, así como por la pelvis, escápula, y los huesos del carpo y tarso. La entidad suele ser clínicamente silenciosa y se diagnostica de manera incidental, aunque algunos pacientes pueden experimentar dolor articular leve con o sin derrame articular. La resistencia ósea es normal."},"it":{"name":"Osteopoichilosi isolata","definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da foci osteosclerotici multipli, piccoli, di forma rotonda o ovoidale, localizzati prevalentemente nelle epifisi e nelle metafisi delle ossa tubolari lunghe, nelle ossa del bacino, della scapola, del carpo e del tarso. Dal punto di vista clinico, di solito la malattia è silente e viene diagnosticata casualmente, sebbene alcuni pazienti lamentino un lieve dolore articolare con o senza versamento articolare. La forza ossea è normale."},"nl":{"name":"Geïsoleerde osteopoikilose","definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door multipele, kleine, ronde tot ovoïde osteosclerotische foci met een predilectie voor epifysen en metafysen van pijpbeenderen, alsook bekken, scapula, carpalen, en tarsalen. De aandoening is meestal klinisch niet waarneembaar en wordt enkel toevallig ontdekt, hoewel sommige patiënten mogelijk milde gewrichtspijn ervaren, met of zonder effusie van gewricht. Botsterkte is normaal."},"pt":{"name":"Osteopoiquilose isolada"},"pl":{"name":"Osteopoikilia izolowana"},"cs":{"name":"Izolovaná osteopoikilóza"},"uk":{"name":"Ізольований остеопоїкілоз","definition":"A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal."},"zh":{"name":"孤立性骨质疏松","definition":"一种罕见的原发性骨发育不良，其特征是多个圆形或卵圆形的小型骨硬化灶，好发于长管状骨以及骨盆、肩胛骨、腕骨和跗骨的骨骺和干骺端。该病常无临床表型，仅偶然发现，但一些患者可能会有伴或不伴关节积液的轻度关节疼痛。患者骨骼强度正常。"},"tr":{"name":"İzole osteopoikoz"}},"xrefs":[{"source":"OMIM","code":"166700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"801926378"},{"source":"MONDO","code":"0015634","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563484","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833699","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]}],"children":[],"genes":[{"symbol":"LEMD3","name":"LEM domain containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26694706[PMID]","hgnc":"28887","ensembl":"ENSG00000174106","omim":"607844","loci":["12q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Worldwide","status":"Validated","source":"31129707[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Worldwide","status":"Validated","source":"31129707[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-15","source":"31129707[PMID]_23910432[PMID]_31617484[PMID]_26644888[PMID]","terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040068","label":"Abnormality of limb bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009106","label":"Abnormal pelvis bone ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100925","label":"Sclerosis of foot bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004289","label":"Sclerotic foci in hand bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030840","label":"Ankle pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000620","label":"Dacryocystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032148","label":"Episodic pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030838","label":"Hip pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004240","label":"Sclerotic foci within carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001474","label":"Sclerotic scapulae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031051","label":"Tarsal sclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007417","label":"Discoid lupus rash","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100324","label":"Scleroderma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Very rare (<4-1%)","criteria":null}]}}