{"orpha":53697,"name":"Gnathodiaphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["GDD"],"definition":"Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53697/","orphanet_url":"https://www.orpha.net/en/disease/detail/53697","names":{"fr":{"name":"Dysplasie gnatho-diaphysaire","synonyms":["GDD"],"definition":"La dysplasia gnatho-diaphysaire est une dysplasie osseuse rare caractérisée par une fragilité osseuse, de fréquentes fractures osseuses à un jeune âge, des lésions cémento-osseuses des os de la mâchoire, une incurvation des os longs (tibia et fibula) et une sclérose diaphysaire des longs os associée à une ostéopénie généralisée. La maladie suit un mode de transmission autosomique dominant."},"de":{"name":"Dysplasie, gnatho-diaphysäre","synonyms":["GDD"]},"es":{"name":"Displasia gnatodiafisaria","synonyms":["GDD"],"definition":"Es una displasia ósea caracterizada por fragilidad ósea, frecuentes fracturas óseas a una edad temprana, lesiones cemento-óseas en los huesos de la mandíbula, arqueamiento de los huesos tubulares (tibia y peroné) y esclerosis diafisaria de los huesos largos, asociada a osteopenia generalizada. La enfermedad sigue un patrón de transmisión autosómico dominante."},"it":{"name":"Displasia gnatodiafisaria","synonyms":["GDD"],"definition":"La displasia gnatodiafisaria (GDD) è una displasia ossea caratterizzata da fragilità ossea, fratture ossee frequenti nella giovane età, lesioni cemento-ossee delle ossa della mandibola, incurvatura delle ossa tubulari (tibia e perone) e sclerosi diafisaria delle ossa lunghe, associata ad osteopenia generalizzata. La trasmissione è autosomica dominante."},"nl":{"name":"Gnathodiafysaire dysplasie","synonyms":["GDD"],"definition":"Gnathodiafysaire dysplasie (GDD) is een botdysplasie die gekarakteriseerd wordt door botfragiliteit, frequente botfracturen op jonge leeftijd, cemento-osseuze letsels aan de kaakbeenderen, buiging van pijpbeenderen (scheen- en kuitbeen) en diafysaire sclerose van pijpbeenderen met gegeneraliseerde osteopenie. GDD volgt een autosomaal dominant overervingspatroon."},"pt":{"name":"Displasia gnatodiafisária"},"pl":{"name":"Dysplazja szczękowo-trzonowa","synonyms":["GDD"]},"cs":{"name":"Gnathodiafyzární dysplázie","synonyms":["GDD"]},"uk":{"name":"Гнатодіафізарна дисплазія","synonyms":["GDD"],"definition":"Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission."},"zh":{"name":"颌骨干发育不良","synonyms":["GDD"]},"tr":{"name":"Gnatodiyafizyal displazi","synonyms":["GDD"]}},"xrefs":[{"source":"OMIM","code":"166260","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":"index","validated":true,"icd11_uri":"1984860886"},{"source":"MONDO","code":"0008151","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833736","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ANO5","name":"anoctamin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23047743[PMID]","hgnc":"27337","ensembl":"ENSG00000171714","omim":"608662","loci":["11p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27068316[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"24776605[PMID]_23047743[PMID]","terms":[{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012802","label":"Broad jaw","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000935","label":"Thickened cortex of long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007626","label":"Mandibular osteomyelitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}