{"orpha":1879,"name":"Melorheostosis with osteopoikilosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MSBD syndrome","Mixed sclerosing bone dystrophy"],"definition":"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1879/","orphanet_url":"https://www.orpha.net/en/disease/detail/1879","names":{"fr":{"name":"Mélorhéostose avec ostéopoecilie","synonyms":["Dystrophie osseuse sclérosante mixte","Mélorhéostose avec ostéopoïkilose","Syndrome MSBD"],"definition":"Dysplasie osseuse sclérosante rare, associant les signes cliniques et radiologiques de la mélorhéostose et de l'ostéopoecilie, rapportée dans certaines familles atteintes d'ostéopoecilie, qui se caractérise par un tableau clinique variable de douleurs et de déformations des membres."},"de":{"name":"Melorheostose mit Osteopoikilosis","synonyms":["Knochendystrophie, gemischte sklerotisierende","MSBD-Syndrom"],"definition":"Melorheostose mit Osteopoikilose ist eine seltene sklerosierende Knochendysplasie, die die klinischen und radiologischen Merkmale von Melorheostose und Osteopoikilose kombiniert (siehe dort), die in einigen Familien mit Osteopoikilose berichtet wurde und die sich durch eine variable Darstellung von Gliederschmerzen und -deformitäten auszeichnet."},"es":{"name":"Melorreostosis con osteopoiquilia","synonyms":["Distrofia ósea esclerosante mixta","Síndrome MSBD"],"definition":"La melorreostosis con osteopoiquilia es una displasia ósea esclerosante rara, que combina los rasgos clínicos y radiológicos de la melorreostosis y la osteopoiquilia (consulte estos términos). Se ha descrito en algunas familias con osteopoiquilia y se caracteriza por una presentación variable de dolor y deformidades de las extremidades."},"it":{"name":"Meloreostosi con osteopoichilosi","synonyms":["Distrofia ossea sclerosante mista","Sindrome MSBD"],"definition":"La meloreostosi con osteopoichilosi è una displasia ossea sclerosante rara, che associa i segni clinici e radiologici della meloreostosi e della osteopoichilosi (si vedano questi termini), presenti in alcune famiglie con osteopoichilosi. È caratterizzata da segni variabili di dolore e deformità degli arti."},"nl":{"name":"Melorheostose met osteopoikilose","synonyms":["Gemengde scleroserende botdystrofie","MSBD-syndroom"],"definition":"Melorheostose met osteopoikilose is een zeldzame scleroserende botdysplasie, waarbij de klinische en radiologische kenmerken van melorheostose en osteopoikilose (zie deze termen) gecombineerd zijn. De ziekte werd gemeld bij sommige families met osteopoikilose en wordt gekarakteriseerd door een variabele presentatie van pijn en misvormingen aan de ledematen."},"pt":{"name":"Melorreostose com com osteopoiquilose","synonyms":["Distrofia óssea esclerosante mista","Síndrome MSBD"]},"pl":{"name":"Meloreostoza z osteopoikilią","synonyms":["Mieszana stwardniająca dystrofia kości","Zespół MSBD"]},"cs":{"name":"Melorheostóza s osteopoikilózou","synonyms":["MSBD syndrom","Smíšená sklerozující kostní dystrofie"]},"uk":{"name":"Мелореостоз з остеопойкілозом","synonyms":["Змішана склерозуюча кісткова дистрофія","Синдром MSBD"],"definition":"Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities."},"zh":{"name":"肢骨纹状肥大伴全身脆性骨硬化","synonyms":["混合型骨硬化性营养不良"]},"tr":{"name":"Osteopoikilozlu melorheostoz","synonyms":["MSBD sendromu","Karma sklerozan kemik distrofisi"]}},"xrefs":[{"source":"OMIM","code":"166700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"152942585"},{"source":"MONDO","code":"0015995","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563593","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3149695","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3690","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) in","status":"Assessed","source":"15489854[PMID]_17087626[PMID]","hgnc":"28887","ensembl":"ENSG00000174106","omim":"607844","loci":["12q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010001","label":"Complete duplication of the distal phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010739","label":"Osteopoikilosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null}]}}