{"orpha":33067,"name":"Metaphyseal chondrodysplasia, Jansen type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33067/","orphanet_url":"https://www.orpha.net/en/disease/detail/33067","names":{"fr":{"name":"Chondrodysplasie métaphysaire type Jansen","definition":"Dysplasie squelettique autosomique dominante rare caractérisée par une petite taille avec membres courts (due à des modifications sévères de la métaphyse souvent identifiées par imagerie au cours de l'enfance), une démarche dandinante, des jambes arquées, des déformations des articulations dues à des contractions, des mains courtes avec un hippocratisme digital, une clinodactylie, une proéminence de la partie supérieure du visage et une petite mandibule, ainsi qu'une hypercalcémie chronique indépendante de l'hormone parathyroïdienne, une hypercalciurie et une légère hypophosphatémie."},"de":{"name":"Chondrodysplasie, metaphysäre, Typ Jansen","definition":"Eine seltene autosomal-dominante Skelettdysplasie, die durch Kleinwuchs mit kurzen Gliedmaßen (aufgrund schwerer metaphysärer Veränderungen, die häufig im Kindesalter durch bildgebende Verfahren entdeckt werden), watschelnden Gang, O-Beine, kontrakturbedingte Fehlbildungen der Gelenke, kurze Hände mit Trommelschlägelfingern, Klinodaktylie, prominentes Obergesicht und kleinen Unterkiefer sowie chronische, vom Parathormon unabhängige Hyperkalzämie, Hyperkalziurie und leichte Hypophosphatämie gekennzeichnet ist."},"es":{"name":"Condrodisplasia metafisaria tipo Jansen","definition":"Es una displasia esquelética autosómica dominante muy poco frecuente caracterizada por talla baja con extremidades cortas (debido a graves alteraciones metafisarias que a menudo se diagnostican en la infancia por estudios radiológicos), marcha anadeante, incurvación de las piernas, malformaciones por contracturas articulares, manos cortas con dedos hipocráticos, clinodactilia, prominencia de malares y mandíbula pequeña, así como hipercalcemia crónica independiente de la hormona paratiroidea, hipercalciuria e hipofosfatemia leve."},"it":{"name":"Condrodisplasia metafisaria, tipo Jansen","definition":"La condrodiplasia metafisaria di Jensen (JMC) è una displasia scheletrica molto rara a trasmissione autosomica dominante. È caratterizzata da bassa statura associata ad arti corti (causata da gravi modifiche metafisarie che spesso vengono individuate durante l'infanzia attraverso le radiografie), andatura a base allargata, gambe arcuate, deformità da contratture delle articolazioni, mani piccole con ippocratismo digitale, clinodattilia, prominenza della parte superiore della faccia, mandibola piccola, ipercalcemia indipendente dall'ormone paratiroideo, ipercalciuria e modesta ipofosfatemia."},"nl":{"name":"Metafysaire chondrodysplasie, Jansen-type","definition":"Een zeldzame autosomaal dominante skeletdysplasie, gekenmerkt door kleine gestalte met korte ledematen (als gevolg van ernstige metafysaire veranderingen die vaak in de kindertijd worden ontdekt door beeldvorming), waggelende gang, kromstand van benen, misvormingen door contracturen van gewrichten, korte handen met trommelstokvingers, clinodactylie, prominent bovenste gelaat en kleine onderkaak, alsook chronische parathyroïdhormoon-onafhankelijke hypercalciëmie, hypercalciurie, en milde hypofosfatemie."},"pt":{"name":"Condrodisplasia metafisária tipo Jansen"},"pl":{"name":"Chondrodysplazja przynasadowa typu Jansena","definition":"Rzadka dysplazja szkieletu o dziedziczeniu autosomalnym dominującym, charakteryzująca się niskim wzrostem i skróceniem kończyn (z powodu nieprawidłowości przynasad kości, które często są wykrywane w dzieciństwie w badaniach obrazowych), kaczkowatym chodem, wygięciem kończyn dolnych, przykurczami deformującymi stawy, krótkimi dłońmi z pałeczkowatymi palcami, klinodaktylią, wydatną górną częścią twarzy i małożuchwiem, a także przewlekłą hiperkalcemią niezależną od parathormonu, hiperkalciurią i łagodną hipofosfatemią."},"cs":{"name":"Metafyzární chondrodysplázie Jansen"},"uk":{"name":"Метафізарна хондродисплазія, тип Янсена","definition":"A rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia."},"zh":{"name":"干骺端软骨发育不良，Jansen型"},"tr":{"name":"Metafizeal kondrodisplazi, Jansen tipi"}},"xrefs":[{"source":"OMIM","code":"156400","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":"1652660420"},{"source":"MONDO","code":"0007982","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265295","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"79","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":[{"symbol":"PTH1R","name":"parathyroid hormone 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"7701349[PMID]_8703170[PMID]","hgnc":"9608","ensembl":"ENSG00000160801","omim":"168468","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-08","source":"20301736[PMID]_39086440[PMID]_29566257[PMID]","terms":[{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003080","label":"Hydroxyprolinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002694","label":"Sclerosis of skull base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002753","label":"Thin bony cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200138","label":"Bilateral choanal atresia/stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034392","label":"Joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010537","label":"Wide cranial sutures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Excluded (0%)","criteria":null}]}}