{"orpha":177,"name":"Rhizomelic chondrodysplasia punctata","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RCDP"],"definition":"A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-177/","orphanet_url":"https://www.orpha.net/en/disease/detail/177","names":{"fr":{"name":"Chondrodysplasie ponctuée rhizomélique","synonyms":["RCDP"],"definition":"Dysplasie osseuse primaire rare caractérisée par un raccourcissement rhizomélique des membres, des calcifications ponctuées dans le cartilage avec des anomalies épiphysaires et métaphysaires (chondrodysplasie ponctuée) et une fente coronale des vertèbres, associée à un profond retard de croissance postnatale, une cataracte à apparition précoce, une déficience intellectuelle sévère et des crises d'épilepsie."},"de":{"name":"Chondrodysplasia punctata, rhizomeler Typ","synonyms":["RCDP","Rhizomele Chondrodysplasia punctata"],"definition":"Eine primäre Knochendysplasie, die durch rhizomele Verkürzung der Gliedmaßen, punktförmige Verkalkungen im Knorpel mit epiphysären und metaphysären Anomalien (Chondrodysplasia punctata) und koronale Wirbelspalten gekennzeichnet ist und mit einer ausgeprägten postnatalen Wachstumsstörung, früh einsetzendem Katarakt, schwerer Intelligenzminderung und Krampfanfällen einhergeht."},"es":{"name":"Condrodisplasia punctata rizomélica","synonyms":["RCDP"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por un acortamiento rizomélico de las extremidades, calcificaciones puntiformes en el cartílago con anomalías epifisarias y metafisarias (condrodisplasia punctata) y vértebras coronales hendidas asociadas a una profunda deficiencia del crecimiento postnatal, cataratas de inicio temprano, grave discapacidad intelectual y crisis epilépticas."},"it":{"name":"Condrodisplasia puntata rizomelica","synonyms":["RCDP"],"definition":"La condrodisplasia puntata rizomelica (RCDP) è una displasia scheletrica primitiva rara, caratterizzata dall'accorciamento rizomelico degli arti, dalle calcificazioni puntate delle cartilagini con anomalie delle epifisi e delle metafisi (condrodisplasia puntata), dalla schisi coronale delle vertebre, dal grave ritardo della crescita postnatale, dalla cataratta precoce, dalla disabilità intellettiva grave e dalle crisi epilettiche."},"nl":{"name":"Rhizomele chondrodysplasia punctata","synonyms":["RCDP"],"definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door rhizomele verkorting van ledemaat, puntvormige calcificatie in kraakbeen met epifysaire en metafysaire afwijkingen (chondrodysplasia punctata) en diepe inkeping tussen voorste en achterste deel van wervels, geassocieerd met zeer ernstige postnatale groeideficiëntie, vroeg optredend cataract, ernstige intellectuele achterstand, en insulten."},"pt":{"name":"Condrodisplasia pontuada tipo rizomélico","definition":"A condrodisplasia rizomélica é uma forma de condrodisplasia punctata (ver este termo), um grupo de doenças em que a característica comum é a presença de calcificações perto das articulações à nascença."},"pl":{"name":"Rizomeliczna chondrodysplazja punktowa","synonyms":["RCDP"]},"cs":{"name":"Rhizomelická chondrodysplasia punctata","synonyms":["RCDP","Rhizomelická chondrodysplázie"]},"uk":{"name":"Різомелічна точкова хондродисплазія","synonyms":["RCDP"],"definition":"A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures."},"zh":{"name":"肢根型点状软骨发育不良","synonyms":["RCDP"]},"tr":{"name":"Rizomelik kondrodisplazi punktata","synonyms":["RCDP"]}},"xrefs":[{"source":"OMIM","code":"215100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"222765","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600121","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616716","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"260357080"},{"source":"MONDO","code":"0015776","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018902","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282529","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13160","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93442,"name":"Chondrodysplasia punctata","classifications":[147,156,199]},{"orpha":3276,"name":"Disorder of plasmalogens biosynthesis","classifications":[150,156]},{"orpha":98648,"name":"Musculoskeletal disease with cataract","classifications":[156,189]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225686,"name":"Peroxisomal disease with epilepsy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":309789,"name":"Rhizomelic chondrodysplasia punctata type 1","type":"Etiological subtype"},{"orpha":309796,"name":"Rhizomelic chondrodysplasia punctata type 2","type":"Etiological subtype"},{"orpha":309803,"name":"Rhizomelic chondrodysplasia punctata type 3","type":"Etiological subtype"},{"orpha":468717,"name":"Rhizomelic chondrodysplasia punctata type 5","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PEX5","name":"peroxisomal biogenesis factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26220973[PMID]","hgnc":"9719","ensembl":"ENSG00000139197","omim":"600414","loci":["12p13.31"],"via":{"orpha":468717,"name":"Rhizomelic chondrodysplasia punctata type 5"}},{"symbol":"AGPS","name":"alkylglycerone phosphate synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21990100[PMID]","hgnc":"327","ensembl":"ENSG00000018510","omim":"603051","loci":["2q31.2"],"via":{"orpha":309803,"name":"Rhizomelic chondrodysplasia punctata type 3"}},{"symbol":"GNPAT","name":"glyceronephosphate O-acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21990100[PMID]","hgnc":"4416","ensembl":"ENSG00000116906","omim":"602744","loci":["1q42.2"],"via":{"orpha":309796,"name":"Rhizomelic chondrodysplasia punctata type 2"}},{"symbol":"PEX7","name":"peroxisomal biogenesis factor 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21990100[PMID]","hgnc":"8860","ensembl":"ENSG00000112357","omim":"601757","loci":["6q23.3"],"via":{"orpha":309789,"name":"Rhizomelic chondrodysplasia punctata type 1"}}],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"34229749[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"United States","status":"Validated","source":"34229749[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"34229749[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null}]}}