{"orpha":166272,"name":"Odontochondrodysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome","Goldblatt chondrodysplasia","Goldblatt syndrome","ODCD"],"definition":"A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166272/","orphanet_url":"https://www.orpha.net/en/disease/detail/166272","names":{"fr":{"name":"Odontochondrodysplasie","synonyms":["Syndrome de chondrodysplasie-dentinogenèse imparfaite-laxité articulaire","Chondrodysplasie de Goldblatt","ODCD","Syndrome de Goldblatt"],"definition":"Dysplasie osseuse primaire rare, caractérisée par l'association d'une dysplasie spondylométaphysaire, d'une hyperlaxité ligamentaire généralisée et d'une dentinogenèse imparfaite. Les principales anomalies squelettiques sont une petite taille, une poitrine étroite, une scoliose, un raccourcissement mésomélique des membres et une brachydactylie. Les radiographies mettent en évidence de graves irrégularités métaphysaires des os tubulaires, une platyspondylie avec fentes coronales, des épiphyses des mains de forme conique, des ailes iliaques de forme carrée et une coxa valga. D'autres manifestations extrasquelettiques, telles que l'hypoplasie pulmonaire, la maladie rénale kystique et l'hydrocéphalie non obstructive ont également été rapportées."},"de":{"name":"Odontochondrodysplasia","synonyms":["Chondrodysplasie-Dentinogenesis imperfecta-Gelenkhypermobilität-Syndrom","Goldblatt-Syndrom"],"definition":"Eine primäre Knochendysplasie, die durch die Kombination von spondylometaphysärer Dysplasie, generalisierter Gelenklaxität und Dentinogenesis imperfecta gekennzeichnet ist. Zu den hauptsächlichen Skelettanomalien gehören Kleinwuchs, schmaler Brustkorb, Skoliose, mesomale Verkürzung der Gliedmaßen und Brachydaktylie. Zu den radiologischen Merkmalen gehören schwere metaphysäre Unregelmäßigkeiten der Röhrenknochen, Platyspondylie mit koronalen Spalten, kegelförmige Epiphysen der Hände, quadratische Darmbeinflügel und Coxa valga. Es wurde auch über zusätzliche Manifestationen außerhalb des Skeletts wie pulmonale Hypoplasie, zystische Nierenerkrankung und nicht-obstruktiver Hydrozephalus berichtet."},"es":{"name":"Odontocondrodisplasia","synonyms":["Condrodisplasia de Goldblatt","Condrodisplasia-dentinogénesis imperfecta-laxitud articular","Condrodisplasia-dentinogénesis imperfecta-laxitud de las articulaciones","ODCD","Síndrome de Goldblatt"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por la asociación de displasia espondilometafisaria, laxitud articular generalizada y dentinogénesis imperfecta. Las principales anomalías esqueléticas comprenden talla baja, tórax estrecho, escoliosis, acortamiento mesomélico de las extremidades y braquidactilia. Las características radiográficas incluyen irregularidades metafisarias graves de los huesos tubulares, platispondilia con hendiduras coronales, epífisis cónicas en las manos, alas ilíacas cuadradas y coxa valga. También se han descrito manifestaciones extraesqueléticas adicionales como hipoplasia pulmonar, enfermedad renal quística e hidrocefalia no obstructiva."},"it":{"name":"Odontocondrodisplasia","synonyms":["Condrodisplasia - dentinogenesi imperfetta - lassità articolare","Condrodisplasia di Goldblatt","ODCD","Odontocondrodisplasia"],"definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata dalla displasia spondilometafisaria, dalla lassità articolare generalizzata e dalla dentinogenesi imperfetta. Le principali anomalie scheletriche comprendono la bassa statura, il torace stretto, la scoliosi, l'accorciamento mesomelico degli arti e la brachidattilia. Le radiografie evidenziano gravi irregolarità metafisarie delle ossa tubolari, platispondilia con schisi coronali, epifisi coniche nelle mani, ossa iliache squadrate e coxa valga. I segni clinici extrascheletrici comprendono l'ipoplasia polmonare, la malattia cistica renale e l'idrocefalo non ostruttivo."},"nl":{"name":"Odontochondrodysplasie","synonyms":["Chondrodysplasie - dentinogenesis imperfecta - gewrichtslaxiteit-syndroom","Goldblatt-chondrodysplasie","ODCD","Syndroom van Goldblatt"],"definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door de associatie van spondylometafysaire dysplasie, gegeneraliseerde gewrichtslaxiteit, en dentinogenesis imperfecta. De voornaamste skeletanomalieën zijn kleine gestalte, smalle thorax, scoliose, mesomele verkorting van ledematen, en brachydactylie. Radiografische kenmerken zijn onder meer ernstige metafysaire afwijkingen van pijpbeenderen, platyspondylie met inkeping tussen voorste en achterste deel van wervellichaam ('coronal cleft'), kegelvormige epifysen van handen, rechthoekige iliumvleugels, en coxa valga. Bijkomende extraskeletale manifestaties zoals pulmonale hypoplasie, cystische nierziekte, en niet-obstructieve hydrocefalie, werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de Goldblatt","definition":"A odontocondrodisplasia, também designada por síndrome de Goldblatt, é uma situação clínica muito rara que associa condrodisplasia a dentinogénese imperfeita."},"pl":{"name":"Zespół Goldblatta","synonyms":["Chondrodysplazja - dentinogenesis imperfecta - wiotkość stawów","Chondrodysplazja Goldblatta","Dysplazja zębowo-chrzęstna","ODCD"]},"cs":{"name":"Goldblattův syndrom","synonyms":["Goldblattova chondrodysplázie","ODCD","Odontochondrodysplázie","Syndrom zahrnující chondrodysplázii, dentinogenesis imperfecta a hyperlaxicitu kloubů"]},"uk":{"name":"Одонтохондродисплазія","synonyms":["Хондродисплазія - недосконалий дентиногенез - синдром розхитаності суглобів","Хондродисплазія Гольдблатта","Синдром Гольдблатта","ODCD"],"definition":"A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported."},"zh":{"name":"骨软骨发育不良","synonyms":["软骨发育不良-牙本质发育不全-关节松弛综合征"],"definition":"一种罕见的原发性骨发育不良，其特征是脊椎干骺端发育不良、全身性关节松弛和牙本质发育不全。主要骨骼异常包括身材矮小、胸廓狭窄、脊柱侧凸、四肢中部缩短和短指/趾。影像学特征包括管状骨干骺端重度不规则，扁平椎伴有冠状裂，手部锥形骨骺，方形髂骨翼和髋外翻。其他骨症状，如肺发育不良、囊性肾病和非梗阻性脑积水也有报道。"},"tr":{"name":"Odontokondrodisplazi","synonyms":["ODCD","Goldblatt sendromu","Goldblatt kondrodisplazi","Kondrodisplazi-dentinogenez imperfekta-eklem gevşekliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"184260","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0100325","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100325","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535792","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2745953","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8717","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":180766,"name":"Malformative syndrome with dentinogenesis imperfecta","classifications":[147,156,197]},{"orpha":254,"name":"Spondylometaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TRIP11","name":"thyroid hormone receptor interactor 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30728324[PMID]","hgnc":"12305","ensembl":"ENSG00000100815","omim":"604505","loci":["14q32.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"18241073[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18241073[PMID]"}],"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:0010579","label":"Cone-shaped epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000703","label":"Dentinogenesis imperfecta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003278","label":"Square pelvis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}