{"orpha":50945,"name":"Blomstrand lethal chondrodysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BLC","BOCD","Blomstrand chondrodysplasia","Blomstrand osteochondrodysplasia","Chondrodysplasia, Blomstrand type"],"definition":"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50945/","orphanet_url":"https://www.orpha.net/en/disease/detail/50945","names":{"fr":{"name":"Chondrodysplasie létale de Blomstrand","synonyms":["BLC","BOCD","Chondrodysplasie de Blomstrand","Chondrodysplasie type Blomstrand","Ostéochondrodysplasie de Blomstrand"],"definition":"Dysplasie ostéosclérotique néonatale caractérisée par une avance de la maturation osseuse endochondrale, des membres très courts, un nanisme et une létalité prénatale."},"de":{"name":"Chondrodysplasie Typ Blomstrand","synonyms":["BLC","BOCD","Blomstrand letale Chondrodysplasie"]},"es":{"name":"Condrodisplasia de Blomstrand letal","synonyms":["BLC","BOCD","Condrodisplasia de Blomstrand","Condrodisplasia, tipo Blomstrand","Osteocondrodisplasia de Blomstrand"],"definition":"Es una displasia osteoesclerótica neonatal caracterizada por un grado de maduración ósea endocondral avanzado, extremidades muy cortas, enanismo y mortalidad prenatal."},"it":{"name":"Condrodisplasia letale di Blomstrand","synonyms":["BLC","BOCD","Condrodisplasia di Blomstrand","Condrodisplasia tipo Blomstrand","Osteocondrodisplasia di Blomstrand"]},"nl":{"name":"Letale chondrodysplasie van Blomstrand","synonyms":["BLC","BOCD","Chondrodysplasie van Blomstrand","Chondrodysplasie, Blomstrand-type","Osteochondrodysplasie van Blomstrand"],"definition":"Letale chondrodysplasie van Blomstrand (BLC) is een neonatale osteosclerotische dysplasie (zie deze term) gekenmerkt door geavanceerde endochondrale botmaturatie, zeer korte ledematen, dwerggroei en prenatale sterfte."},"pt":{"name":"Condrodisplasia fatal Blomstrand","synonyms":["BLC","BOCD","Condrodisplasia Blomstrand","Osteocondrodisplasia Blomstrand"]},"pl":{"name":"Chondrodysplazja typu Blomstranda","synonyms":["BLC","Śmiertelna chondrodysplazja Blomstranda","Letalna chondrodysplazja Blomstranda"]},"cs":{"name":"Blomstrandova letální chondrodysplázie","synonyms":["BLC","BOCD","Blomstrandova chondrodysplázie","Blomstrandova osteochondrodysplázie","Chondrodysplázie, Blomstrandův typ"]},"uk":{"name":"Летальна хондродисплазія Бломстранда","synonyms":["BLC","Хондродисплазія Бломстранда","Остеохондродисплазія Бломстранда","BOCD","Хондродисплазія, тип Бломстранда"],"definition":"Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality."},"zh":{"name":"Blomstrand型致死性软骨发育不良","synonyms":["骨软骨发育不良Blomstrand型"]},"tr":{"name":"Blomstrand letal kondrodisplazi","synonyms":["BLC","BOCD","Blomstrand kondrodisplazi","Blomstrand osteokondrodisplazi","Kondrodisplazi, Blomstrand tipi"]}},"xrefs":[{"source":"OMIM","code":"215045","qualifier":"E","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":"1147450651"},{"source":"MONDO","code":"0008970","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537914","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859148","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"914","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93443,"name":"Neonatal osteosclerotic dysplasia","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"PTH1R","name":"parathyroid hormone 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9832466[PMID]_9745456[PMID]_9649554[PMID]","hgnc":"9608","ensembl":"ENSG00000160801","omim":"168468","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"27353973[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27353973[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"ISBN:0195214749[OTHER]_10664159[PMID]","terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000916","label":"Broad clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006402","label":"Distal shortening of limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005716","label":"Lethal skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003021","label":"Metaphyseal cupping","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008921","label":"Neonatal short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100240","label":"Synostosis of joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null}]}}