{"orpha":93398,"name":"Genochondromatosis type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93398/","orphanet_url":"https://www.orpha.net/en/disease/detail/93398","names":{"fr":{"name":"Génochondromatose type 2","definition":"La génochondromatose type 2 est un trouble génétique rare du développement osseux caractérisé par des clavicules normales et des enchondromes métaphysaires généralisés symétriques, siégeant surtout au niveau distal du fémur et au niveau proximal de l'humérus, ainsi qu'au niveau des os des poignets, des mains et des pieds. Les lésions régressent tardivement avec l'oblitération du cartilage de conjugaison. L'examen clinique est normal et l'évolution de la maladie est bénigne."},"de":{"name":"Genochondromatose Typ 2","definition":"Genochondromatose Typ 2 ist eine seltene, genetisch bedingte Knochenentwicklungsstörung, die durch normale Klavikula und symmetrische, generalisierte metaphysäre Enchondrome gekennzeichnet ist, insbesondere im distalen Femur, proximalen Humerus und in den Knochen der Handgelenke, Hände und Füße. Die Läsionen bilden sich später im Leben mit Obliteration des Knorpelwachstums zurück. Die klinische Untersuchung ist normal und der Verlauf der Erkrankung ist gutartig."},"es":{"name":"Genocondromatosis tipo 2","definition":"La genocondromatosis tipo 2 es un trastorno genético poco frecuente del desarrollo óseo caracterizado por clavículas normales y encondromas metafisarios simétricos generalizados, particularmente en el fémur distal, el húmero proximal y los huesos de las muñecas, manos y pies. Las lesiones revierten más tarde en la vida con la obliteración del crecimiento del cartílago. La exploración clínica es normal y el curso de la enfermedad es benigno."},"it":{"name":"Genocondromatosi, tipo 2","definition":"La genocondromatosi tipo 2 è una malattia genetica rara dello sviluppo osseo, caratterizzata da clavicole normali e encondromi metafisari simmetrici e generalizzati, in particolare sulla parte distale del femore e la parte prossimale dell'omero, a livello delle ossa dei polsi, delle mani e dei piedi. In seguito le lesioni regrediscono con la chiusura delle cartilagini di accrescimento. L'esame obiettivo è normale e il decorso della malattia è benigno."},"nl":{"name":"Genochondromatose type 2","definition":"Genochondromatose type 2 is een zeldzame genetische stoornis van de botontwikkeling die wordt gekarakteriseerd door normale sleutelbeenderen en symmetrische, gegeneraliseerde metafysaire enchondromen, vooral in het distale dijbeen, het proximale opperarmbeen en botten van de polsen, handen en voeten. De letsels verminderen op latere leeftijd met obliteratie van groeikraakbeen. Klinisch onderzoek is normaal en het verloop van de ziekte is goedaardig."},"pt":{"name":"Genocondromatose tipo 2"},"pl":{"name":"Genochondromatoza typu 2"},"cs":{"name":"Genochondromatóza, typ 2"},"uk":{"name":"Генохондроматоз, тип 2","definition":"Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign."},"zh":{"name":"遗传性软骨瘤病2型","definition":"遗传性软骨瘤病2型是一种罕见的遗传性骨发育障碍，其特征是正常锁骨和对称、广泛的干骺端内生软骨瘤，尤其是在股骨远端、肱骨近端和腕骨、手骨和足骨。病变在后期随着生长软骨消失而消退。临床体格检查正常，病程为良性。"},"tr":{"name":"Genokondromatoz tip 2"}},"xrefs":[{"source":"OMIM","code":"137360","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1033432522"},{"source":"MONDO","code":"0019680","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511481","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"17632779[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17632779[PMID]"}],"phenotypes":null}