{"orpha":280586,"name":"Chondrodysplasia with joint dislocations, gPAPP type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["gPAPP deficiency"],"definition":"A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280586/","orphanet_url":"https://www.orpha.net/en/disease/detail/280586","names":{"fr":{"name":"Chondrodysplasie avec luxation articulaire type gPAPP","synonyms":["Déficit en gPAPP"],"definition":"Dysplasie osseuse primaire rare d'origine génétique, caractérisée par l'apparition prénatale d'une petite taille disproportionnée, un raccourcissement des membres, des luxations articulaires congénitales, une micrognathie, une fente vélaire, une brachydactylie, des métacarpiens courts et une taille irrégulière des épiphyses métacarpiennes, des centres surnuméraires d'ossification carpienne et une dysmorphie faciale. Des troubles de l'audition et un léger retard psychomoteur ont également été rapportés."},"de":{"name":"Chondrodysplasie mit Gelenkkontrakturen, gPAPP-Typ","synonyms":["gPAPP-Mangel"]},"es":{"name":"Condrodisplasia con luxaciones articulares, tipo gPAPP","synonyms":["Deficiencia de gPAPP"],"definition":"La condrodisplasia con luxaciones articulares tipo gPAPP, es una displasia ósea primaria, genética y poco frecuente, caracterizada por la presentación prenatal de talla baja desproporcionada, acortamiento de las extremidades, luxaciones congénitas de las articulaciones, micrognatia, hendidura del paladar posterior, braquidactilia, metacarpianos cortos y epífisis metacarpianas de tamaño irregular, núcleos de osificación carpal supernumerarios y rasgos faciales dismórficos. También se han descrito deficiencias auditivas y leve retraso psicomotor."},"it":{"name":"Condrodisplasia con dislocazioni articolari, tipo gPAPP","synonyms":["Deficit di gPAPP"],"definition":"La condrodisplasia con dislocazioni articolari tipo gPAPP è una displasia scheletrica primitiva genetica rara, che esordisce in epoca prenatale con bassa statura sproporzionata, accorciamento degli arti, dislocazioni articolari congenite, micrognazia, palatoschisi posteriore, brachidattilia, accorciamento dei metacarpi e dimensioni irregolari delle loro epifisi, centri di ossificazione carpali soprannumerari e dismorfismi facciali. Può associarsi a sordità e lieve ritardo psicomotorio."},"nl":{"name":"Chondrodysplasie met gewrichtsluxaties, gPAPP-type","synonyms":["gPAPP-deficiëntie"],"definition":"Chondrodysplasie met gewrichtsdislocaties, gPAPP-type is een zeldzame, genetische, primaire botdysplasie die gekarakteriseerd wordt door prenatale aanvang van disproportionele kleine gestalte, verkorting van de ledematen, congenitale gewrichtsdislocaties, micrognathie, posterieur gespleten verhemelte, brachydactylie, korte metacarpalen en onregelmatige omvang van de metacarpale epifysen, surnumeraire carpale ossificatiekernen en dysmorfe gelaatskenmerken. Daarnaast werden ook reeds gehoorstoornis en milde psychomotorische achterstand gerapporteerd."},"pt":{"name":"Condrodisplasia com luxações articulares, tipo gPAPP","synonyms":["Deficiência de gPAPP"]},"pl":{"name":"Chondrodysplazja z przemieszczeniem stawów, typ gPAPP","synonyms":["Niedobór gPAPP"],"definition":"*Chondrodysplazja ze zwichnięciami stawów, typ gPAPP, jest rzadką, genetycznie uwarunkowaną, pierwotną dysplazją kostną, która charakteryzuje się nieproporcjonalnie niskim wzrostem, obserwowanym już w okresie prenatalnym, skróceniem kończyn, wrodzonymi zwichnięciami stawów, mikrognacją, rozszczepem podniebienia tylnego, brachydaktylią, skróceniem kości śródręcza i nieregularnymi rozmiarami nasad kości śródręcza, dodatkowymi punktami kostnienia kości nadgarstka i dysmorficznymi cechami twarzy. Ponadto opisywano niedosłuch i łagodne opóźnienie rozwoju psychoruchowego."},"cs":{"name":"Chondrodysplázie s dislokací kloubů, typ gPAPP","synonyms":["Deficit gPAPP"]},"uk":{"name":"Хондродисплазія з вивихами суглобів, тип gPAPP","synonyms":["дефіцит gPAPP"],"definition":"A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported."},"zh":{"name":"软骨发育异常伴关节脱位gPAPP型","synonyms":["gPAPP缺乏症"],"definition":"软骨发育异常伴关节脱位，gPAPP型是一种罕见的遗传性原发性骨发育不良，其特征是产前出现不成比例的身材矮小、肢体短缩、先天性关节脱臼、小下颌畸形、后腭裂、短指畸形、短掌骨和掌骨骨骺大小不规则，多腕骨骨化中心和面部畸形。此外也有报道听力障碍和轻度精神运动发育延迟。"},"tr":{"name":"Eklem çıkıkları ile seyreden kondrodisplazi, gPAPP tipi","synonyms":["gPAPP eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614078","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013561","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3279757","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11009","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"BPNT2","name":"3'(2'), 5'-bisphosphate nucleotidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21549340[PMID]","hgnc":"26019","ensembl":"ENSG00000104331","omim":"614010","loci":["8q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"21549340[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}