{"orpha":2767,"name":"Carpotarsal osteochondromatosis","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Maroteaux-Le Merrer-Bensahel syndrome"],"definition":"A rare primary bone dysplasia with disorganized development of skeletal components characterized by a dysplasia epiphysealis hemimelica, intracapsular or periarticular chondromas of the knee, extraskeletal chondromas, and osteochondromas in various combinations. Patients may present with deformity, swelling, restricted mobility and limited flexion or locking of the affected area. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2767/","orphanet_url":"https://www.orpha.net/en/disease/detail/2767","names":{"fr":{"name":"Ostéochondromatose carpo-tarsienne","synonyms":["Syndrome de Maroteaux-Le Merrer-Bensahel"],"definition":"Dysplasie osseuse primaire rare avec développement anarchique d'un élément du squelette, caractérisée par une dysplasie épiphysaire hémimélique, des chondromes intracapsulaires ou périarticulaires du genou, des chondromes extrasquelettiques et diverses combinaisons d'ostéochondromes. Les patients peuvent présenter une déformation, un gonflement, une mobilité réduite et une limitation de la flexion ou du verrouillage de la zone affectée. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Osteochondromatose, karpotarsale","synonyms":["Maroteaux-le-Merrer-Bensahel-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie mit desorganisierter Entwicklung der Skelettbestandteile, gekennzeichnet durch eine Dysplasia epiphysealis hemimelica, intrakapsuläre oder periartikuläre Chondrome des Knies, extraskelettale Chondrome und Osteochondrome in verschiedenen Kombinationen. Die Patienten können sich mit Fehlbildungen, Schwellungen, eingeschränkter Beweglichkeit und eingeschränkter Beugung oder Blockierung des betroffenen Bereichs vorstellen. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Osteocondromatosis carpotarsiana","synonyms":["Síndrome de Maroteaux-Le Merrer-Bensahel"],"definition":"Es una displasia ósea primaria poco frecuente con desarrollo desorganizado de los componentes esqueléticos, caracterizada por displasia epifisaria hemimélica, condromas intracapsulares o periarticulares de rodilla, condromas extraesqueléticos y osteocondromas en diversas combinaciones. Los pacientes pueden presentar deformidad, edema, movilidad restringida y flexión limitada o bloqueo de la zona afectada. No se han descrito más casos en la literatura desde 1993."},"it":{"name":"Osteocondromatosi carpotarsale","synonyms":["Sindrome di Maroteaux-Le Merrer-Bensahel"]},"nl":{"name":"Carpotarsale osteochondromatose","synonyms":["Syndroom van Maroteaux-Le Merrer-Bensahel"],"definition":"Een zeldzame primaire botdysplasie met gedesorganiseerde ontwikkeling van componenten van het skelet, gekenmerkt door dysplasia epiphysealis hemimelica, intracapsulaire of periarticulaire chondromen van de knie, extraskeletale chondromen, en osteochondromen in verschillende combinaties. Patiënten kunnen zich presenteren met deformiteit, zwelling, beperkte mobiliteit en beperkte flexie of slotverschijnsel (op slot zitten) van het aangetaste gebied. Sinds 1993 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Osteocondromatose carpo-társica","synonyms":["Síndrome Maroteaux-le Merrer-Bensahel"]},"pl":{"name":"Osteochondromatoza nadgarstkowo-stępowa","synonyms":["Zespół Maroteaux, Le Merrera i Bensahela"]},"cs":{"name":"Karpotarzální osteochondromatóza","synonyms":["Maroteauxův-Le Merrerové-Bensahelův syndrom","Maroteaux-Le Merrer-Bensahelův syndrom"]},"uk":{"name":"Карпотарзальний остеохондроматоз","synonyms":["Синдром Марото-Ле Меррера-Бенсахеля"],"definition":"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs."},"zh":{"name":"腕跗骨骨软骨瘤病","synonyms":["Maroteaux-Le Merrer-Bensahel综合征"]},"tr":{"name":"Karpotarsal osteokondromatoz","synonyms":["Maroteaux-Le Merrer-Bensahel sendromu"]}},"xrefs":[{"source":"OMIM","code":"127820","qualifier":"E","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":"1406756925"},{"source":"MONDO","code":"0007490","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565076","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851956","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1128","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":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}