{"orpha":1425,"name":"Desbuquois syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DBQD","Desbuquois dysplasia"],"definition":"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1425/","orphanet_url":"https://www.orpha.net/en/disease/detail/1425","names":{"fr":{"name":"Syndrome de Desbuquois","synonyms":["DBQD","Dysplasie de Desbuquois"],"definition":"Ostéochondrodysplasie caractérisée par un nanisme micromélique sévère, une dysmorphie faciale, une laxité articulaire et de multiples luxations, des anomalies vertébrales et métaphysaires et un âge osseux carpo-tarsien avancé. En fonction de la présence (type&nbsp;1) ou de l'absence (type&nbsp;2) d'anomalies caractéristiques de la main, on distingue deux formes du syndrome de Desbuquois (DBQD). Une variante de la maladie a également été décrite, la variante Kim, caractérisée par une petite taille, des anomalies faciales mineures et des anomalies articulaires plus importantes au niveau des mains."},"de":{"name":"Desbuquois-Syndrom","synonyms":["DBQD","Desbuquois-Dysplasie"],"definition":"Das Desbuquois-Syndrom (DBQD) ist eine Osteochondrodysplasie, die gekennzeichnet ist durch mikromelen Kleinwuchs, Gesichtsdysmorphien, überstreckbare Gelenke mit multiplen Dislokationen, vertebrale und metaphysäre Anomalien sowie fortgeschrittene Karpotarsalverknöcherung. Anhand von charakteristischen Handanomalien werden zwei Subtypen unterschieden. Eine abweichende Form der DBQD, die Kim-Variante, zeigt einen weniger ausgeprägten Phänotypen mit Kleinwuchs und Gelenkanomalien, geringfügige Gesichtsauffälligkeiten und signifikante Handanomalien."},"es":{"name":"Síndrome de Desbuquois","synonyms":["DBQD","Displasia de Desbuquois"],"definition":"Es una osteocondrodisplasia caracterizada por grave talla baja micromélica, dismorfia facial, laxitud articular con luxaciones múltiples, anomalías vertebrales y metafisarias, y osificación carpotarsal avanzada. Se han distinguido dos formas de la enfermedad en función de la presencia (tipo 1) o la ausencia (tipo 2) de anomalías características en la mano. También se ha descrito una variante de la enfermedad, la variante de Kim, caracterizada por talla baja y anomalías articulares menores a nivel facial y más significativas en las manos."},"it":{"name":"Sindrome di Desbuquois"},"nl":{"name":"Syndroom van Desbuquois","synonyms":["DBQD","Dysplasie van Desbuquois"],"definition":"Desbuquoissyndroom (DBQD) is een osteochondrodysplasie gekenmerkt door ernstige dwerggroei met micromelie, dysmorfie van het gezicht, gewrichtslaxiteit met meerdere dislocaties, wervel- en metafysaire afwijkingen en geavanceerde carpo-tarsale ossificatie. Twee vormen werden onderscheiden op basis van de aanwezigheid (type 1) of afwezigheid (type 2) van karakteristieke handafwijkingen. Een variante vorm van DBQD, Kim-variant (zie deze termen), is ook beschreven en wordt gekenmerkt door een kleine gestalte en articulaire, minder belangrijke gezichtsafwijkingen en beduidende handafwijkingen."},"pt":{"name":"Síndrome Desbuquois","synonyms":["DBQD","Displasia de Desbuquois"]},"pl":{"name":"Zespół Desbuquoisa","synonyms":["Dysplazja Desbuquoisa"]},"cs":{"name":"Desbuquoisův syndrom","synonyms":["Desbuquoisova dysplázie"]},"uk":{"name":"Desbuquois синдром (DBQS)","synonyms":["DBQD","Дисплазія Дебюкуа"],"definition":"Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies."},"zh":{"name":"Desbuquois综合征","synonyms":["Desbuquois发育不良"]},"tr":{"name":"Desbuquois sendromu","synonyms":["DBQD","Desbuquois displazisi"]}},"xrefs":[{"source":"OMIM","code":"251450","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615777","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618870","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1222715099"},{"source":"MONDO","code":"0015426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535943","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432242","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1818","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1842,"name":"OBSOLETE: Bone dysplasia, lethal Holmgren type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CANT1","name":"calcium activated nucleotidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22539336[PMID]","hgnc":"19721","ensembl":"ENSG00000171302","omim":"613165","loci":["17q25.3"]},{"symbol":"XYLT1","name":"xylosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24581741[PMID]","hgnc":"15516","ensembl":"ENSG00000103489","omim":"608124","loci":["16p12.3"]},{"symbol":"CSGALNACT1","name":"chondroitin sulfate N-acetylgalactosaminyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31325655[PMID]_27599773[PMID]","hgnc":"24290","ensembl":"ENSG00000147408","omim":"616615","loci":["8p21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"16642505[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"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:0003366","label":"Abnormality of the femoral neck or head region","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}