{"orpha":166100,"name":"Autosomal dominant otospondylomegaepiphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AD OSMED","Stickler syndrome type 3","Stickler syndrome, non-ocular type"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166100/","orphanet_url":"https://www.orpha.net/en/disease/detail/166100","names":{"fr":{"name":"Dysplasie oto-spondylo-mégaépiphysaire autosomique dominante","synonyms":["OSMED AD","Syndrome de Stickler type 3","Syndrome de Stickler type non oculaire"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par une dysmorphie craniofaciale (hypoplasie de l'étage moyen du visage, pont nasal déprimé, petit nez retroussé, fente palatine, syndrome de Pierre Robin), une surdité neurosensorielle bilatérale prononcée et des anomalies articulaires/squelettiques (dont dysplasie spondyloépiphyséale, arthralgie/arthropathie), en l'absence d'anomalies oculaires."},"de":{"name":"Oto-spondylo-megaepiphysäre Dysplasie, autosomal-dominante","synonyms":["AD OSMED","Stickler-Syndrom Typ 3","Stickler-Syndrom, nicht-okulärer Typ"],"definition":"Ein genetisch bedingtes Fehlbildungssyndrom mit multiplen Anomalien, gekennzeichnet durch kraniofaziale Dysmorphien (Hypoplasie des Mittelgesichts, flache Nasenwurzel, kleine Nase mit nach oben gebogener Spitze, Gaumenspalte, Gaumenspalte, Pierre-Robin-Sequenz), ausgeprägter beidseitiger Innenohrschwerhörigkeit und Skelett-/Gelenkanomalien (einschließlich spondyloepiphysärer Dysplasie, Arthralgie/Arthropathie), jedoch ohne Augenanomalien."},"es":{"name":"Displasia oto-espondilo-megaepifisaria autosómica dominante","synonyms":["OSMED autosómica dominante","Síndrome de Stickler tipo 3","Síndrome de Stickler tipo no ocular"],"definition":"Es un trastorno esquelético caracterizado clínicamente por fracturas múltiples, huesos wormianos en cráneo, dentinogénesis imperfecta y dismorfia facial (hipertelorismo, párpados llenos). Aunque los signos son muy similares a los que presenta la osteogénesis imperfecta, la presencia de defectos corticales característicos en ausencia de osteopenia y de alteraciones del colágeno son característicos de este trastorno. No se han descrito más casos en la literatura desde 1999."},"it":{"name":"Sindrome di Stickler, tipo 3","synonyms":["Sindrome di Stickler, tipo non oculare"],"definition":"La sindrome di Stickler tipo 3 è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi craniofacciali (ipoplasia medio-facciale, sella nasale infossata, naso piccolo con punta rivolta verso l'alto, palatoschisi, sequenza di Pierre Robin), sordità neurosensoriale marcata bilaterale e anomalie scheletriche e articolari (displasia spondiloepifisaria, artralgia/artropatia), in assenza di anomalie oculari."},"nl":{"name":"Autosomaal dominante otospondylomega-epifysaire dysplasie","synonyms":["AD OSMED","Syndroom van Stickler type 3","Syndroom van Stickler, niet-oculair type"],"definition":"Een zeldzaam, genetisch multipele congenitale anomalieën/dysmorfie-syndroom, gekenmerkt door craniofaciale dysmorfie (hypoplasie van middengezicht, ingezakte neusbrug, kleine wipneus, gespleten gehemelte, Pierre Robin sequentie), bilateraal uitgesproken sensorineuraal gehoorverlies, en anomalieën van skelet/gewricht (waaronder spondylo-epifysaire dysplasie, artralgie/artropathie), in afwezigheid van ooganomalieën."},"pt":{"name":"Displasia oto-espondilo-megaepifisária autossómica dominante","synonyms":["Síndrome Stickler tipo 3"]},"pl":{"name":"Zespół Sticklera typu 3","synonyms":["Stickler syndrome, nonocular type"],"definition":"Rzadki, genetycznie uwarunkowany zespół mnogich wad/zespół dysmorficzny, charakteryzująca się dysmorfią twarzoczaszki (niedorozwój środkowej części twarzy, płaska nasada nosa, mały nos z zadartym czubkiem, rozszczep podniebienia, sekwencja Pierre'a Robina), obustronnym znacznym niedosłuchem czuciowo-nerwowym oraz wadami układu kostno-stawowego (obejmującymi dysplazję kręgowo-nasadową, bóle stawów/artropatię), przy braku nieprawidłowości ocznych."},"cs":{"name":"Sticklerův syndrom, typ 3","synonyms":["Sticklerův syndrom, forma bez postižení zraku"]},"uk":{"name":"Аутосомно-домінантна отоспондиломегаепіфізарна дисплазія","synonyms":["AD OSMED","Синдром Стіклера, тип 3","Синдром Стіклера, неочний тип"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities."},"zh":{"name":"常染色体显性遗传性骨骺发育不良","synonyms":["斯蒂克勒综合征非眼型"],"definition":"Stickler综合征3型是一种罕见的遗传性多发先天性异常/畸形综合征，其特征是颅面畸形(面中部发育不良、鼻桥凹陷、鼻小伴鼻尖上翘、腭裂、Pierre Robin序列征)、双侧显著感觉神经性听力丧失，和骨骼/关节异常(包括脊椎骨骺发育不良、关节痛/关节病)，但无眼部异常。"},"tr":{"name":"Otozomal dominant otospondilomegaepifizeal displazi","synonyms":["AD OSMED","Stickler sendromu tip 3","Stickler sendromu, oküler olmayan tip"]}},"xrefs":[{"source":"OMIM","code":"184840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1851139619"},{"source":"MONDO","code":"0008490","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537494","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861481","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3450,"name":"Weissenbacher-Zweymuller syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":138041,"name":"Pierre Robin syndrome associated with collagen disease","classifications":[147,156,200,209]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93422,"name":"Type 11 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"16189708[PMID]_21438135[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]},{"symbol":"COL11A2","name":"collagen type XI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2187","ensembl":"ENSG00000204248","omim":"120290","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null}]}}