{"orpha":440354,"name":"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome"],"definition":"A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440354/","orphanet_url":"https://www.orpha.net/en/disease/detail/440354","names":{"fr":{"name":"Syndrome autosomique dominant de myopie-retrusion du visage-surdité neurosensorielle-dysplasie rhizomélique","definition":"Dysplasie osseuse primaire caractérisée par une micromélie avec raccourcissement rhizomélique, un élargissement métaphysaire des os longs, une brachydactylie, de petites scapulas, une micrognathie et un syndrome d'insuffisance thoracique nécessitant une trachéotomie et une ventilation, ainsi qu'une myopie et une surdité de perception sévères. Parmi les autres caractéristiques de la dysmorphie crânio-faciale figurent notamment une bosse frontale, une proptose, des plis épicanthaux, un nez court, un pont nasal plat, des narines antéversées, une rétrusion médiofaciale et la fente palatine."},"de":{"name":"Autosomal-dominante Myopie-Mittelgesichtsrücklage-sensorineuraler Hörverlust-rhizomele Dysplasie-Syndrom","definition":"Eine seltene primäre Knochendysplasie, gekennzeichnet durch Mikromelie mit rhizomeler Verkürzung, metaphysäre Verbreiterung der Röhrenknochen, Brachydaktylie, kleine Skapulae, Mikrognathie und Thoraxinsuffizienz, die eine Tracheotomie und Beatmung erfordert, sowie schwere Myopie und sensorineurale Schwerhörigkeit. Weitere dysmorphe kraniofaziale Merkmale sind Balkonstirn, Proptosis, Epikanthusfalten, kurze Nase, flacher Nasenrücken, antevertierte Nasenlöcher, Retrusion des Mittelgesichts und Gaumenspalte."},"es":{"name":"Síndrome de miopía autosómica dominante-retrusión del tercio medio facial-hipoacusia neurosensorial-displasia rizomélica","synonyms":["Síndrome de miopía autosómica dominante-retrusión del tercio medio facial-sordera neurosensorial-displasia rizomélica"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por micromelia con acortamiento rizomélico, ensanchamiento metafisario de los huesos largos, braquidactilia, escápulas pequeñas, micrognatia e insuficiencia torácica que requiere traqueotomía y ventilación, así como alta miopía e hipoacusia neurosensorial. Otras características craneofaciales dismórficas incluyen protuberancia frontal, proptosis, pliegues epicánticos, nariz corta, puente nasal aplanado, narinas antevertidas, retrusión mediofacial y paladar hendido."},"it":{"name":"Sindrome autosomica dominante miopia-retrusione mediofacciale-sordità neurosensoriale-displasia rizomelica","definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da micromelia con accorciamento rizomelico, allargamento delle metafisi delle ossa lunghe, brachidattilia, scapole piccole, micrognazia e insufficienza toracica (che rende necessaria la tracheostomia e la ventilazione), miopia grave e sordità neurosensoriale. I dismorfismi craniofacciali comprendono la fronte bombata, la proptosi, l'epicanto, il naso corto, la sella nasale piatta, le narici anteverse, la retrusione medio-facciale e la palatoschisi."},"nl":{"name":"Autosomaal dominante myopie - retrusie van middengezicht - sensorineuraal gehoorverlies - rhizomele dysplasie-syndroom","definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door micromelie met rhizomele verkorting, metafysaire verbreding van pijpbeenderen, brachydactylie, kleine schouderbladen, micrognathie en thoracale insufficiëntie die tracheostomie en beademing vereist, ernstige myopie en sensorineuraal gehoorverlies. Overige dysmorfe craniofaciale kenmerken zijn onder meer boller voorhoofd, proptosis, epicanthusplooi, korte neus, platte neusbrug, anteversie van neusgaten, retrusie van middengezicht, en gespleten verhemelte."},"pt":{"name":"Síndrome de miopia-recuo do terço médio da face-perda auditiva neurossensorial-displasia rizomélica autossómica dominante"},"pl":{"name":"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeAutosomalny dominujący zespół miopii, retruzji środkowej części twarzy, czuciowo-nerwowej utraty słuchu i dysplazji rizomelicznej","synonyms":["Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome"]},"cs":{"name":"Autozomálně dominantní syndrom zahrnující myopatii, retrakci střední části obličeje, senzorineurální ztrátu sluchu a rhizomelickou dysplázii","synonyms":["Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome"]},"uk":{"name":"Аутосомно-домінантний синдром міопії-середньолицьової ретрузії-сенсоневральної приглухуватостї-ризомелічної дисплазії","synonyms":["Аутосомно-домінантний синдром короткозорості-середньолицьової ретрузії-сенсоневральної глухоти-ризомелічної дисплазії"],"definition":"A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate."},"zh":{"name":"常染色体显性遗传性近视-中面部退缩-感音神经性听力减退-肢根发育不良综合征","synonyms":["常染色体显性遗传性近视-中面部退缩-感音神经性耳聋-肢根发育不良综合征"],"definition":"罕见的原发性骨发育不良，其特征是四肢短小症，具有肢体根部缩短，长骨的干骺端变宽，短指，小肩胛骨，小下颌畸形和胸廓功能不全，需要气管切开手术和通气治疗，严重的近视和感觉神经性听力减退。进一步的畸形颅面特征包括前额突触，眼球突出，上眦褶皱，短鼻子，鼻梁扁平，鼻孔前倾，面中部凹陷和腭裂。"},"tr":{"name":"Otozomal dominant miyopi-orta yüz retrüzyonu-sensörinöral işitme kaybı-rizomelik displazi sendromu","synonyms":["Otozomal baskın miyopi-orta yüz retrüzyonu-sensorinöral sağırlık-rizomelik displazi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018601","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680056","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93422,"name":"Type 11 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL11A1","name":"collagen type XI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25091507[PMID]","hgnc":"2186","ensembl":"ENSG00000060718","omim":"120280","loci":["1p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25091507[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"25091507[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-02","source":"25091507[PMID]","terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","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:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000947","label":"Dumbbell-shaped long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000882","label":"Hypoplastic scapulae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Frequent (79-30%)","criteria":null}]}}