{"orpha":1427,"name":"Autosomal recessive otospondylomegaepiphyseal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OSMED"],"definition":"Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1427/","orphanet_url":"https://www.orpha.net/en/disease/detail/1427","names":{"fr":{"name":"Dysplasie oto-spondylo-mégaépiphysaire autosomique récessive","synonyms":["OSMED"],"definition":"La dysplasie oto-spondylo-mégaépiphysaire (OSMED) est une anomalie innée de formation du collagène des cartilages qui se caractérise par une surdité neurosensorielle, des épiphyses élargies, une dysplasie squelettique avec des membres disproportionnellement courts, des anomalies vertébrales et un faciès caractéristique."},"de":{"name":"Oto-spondylo-megaepiphysäre Dysplasie, autosomal-rezessive","definition":"Die Oto-spondylo-megaepiphysäre Dysplasie (OSMED) ist eine angeborene Störung der Bildung des Knorpelkollagens. Charakteristische Symptome sind Schallempfindungsschwerhörigkeit, vergrößerte Epiphysen, Skelettdysplasie mit unproportioniert kurzen Gliedmaßen, Wirbelkörperanomalien und ein charakteristisches Gesicht."},"es":{"name":"Displasia oto-espondilo-megaepifisaria","synonyms":["OSMED"],"definition":"La displasia oto-espondilo-megaepifisaria (OSMED) es una anomalía innata de la formación del colágeno de los cartílagos que se caracteriza por una sordera neurosensorial, unas epífisis ensanchadas, una displasia esquelética con miembros desproporcionadamente cortos, unas anomalías vertebrales y una facies característica."},"it":{"name":"Displasia oto-spondilo-megaepifisaria autosomica recessiva","synonyms":["OSMED"]},"nl":{"name":"Autosomaal recessieve otospondylomega-epifysaire dysplasie","synonyms":["OSMED"],"definition":"Otospondylomega-epifysaire dysplasie (OSMED) is een aangeboren defect van vorming van collageen in kraakbeen, gekenmerkt door sensorineuraal gehoorverlies, vergrote epifysen, skeletdysplasie met disproportioneel korte ledematen, anomalieën van wervellichamen, en een typisch aangezicht."},"pt":{"name":"Displasia oto-espondilo-megaepifísária","synonyms":["OSMED"]},"pl":{"name":"Dysplazja uszno - kręgowo-wielkonasadowa","synonyms":["OSMED","Autosomalna recesywna dysplazja uszno-kręgowa-wielkonasadowa"]},"cs":{"name":"Otospondylomegaepifyzární dysplázie","synonyms":["OSMED"]},"uk":{"name":"Отоспондиломегаепіфізарна дисплазія","synonyms":["OSMED"],"definition":"Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies."},"zh":{"name":"大耳脊椎骨骺发育不良","synonyms":["OSMED"]},"tr":{"name":"Otospondilomegaepifizal displazi","synonyms":["OSMED"]}},"xrefs":[{"source":"OMIM","code":"215150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1885284987"},{"source":"MONDO","code":"0008975","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4520892","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4130","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084407","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93422,"name":"Type 11 collagen-related bone disorder","classifications":[156]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL11A2","name":"collagen type XI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10677296[PMID]_21438135[PMID]","hgnc":"2187","ensembl":"ENSG00000204248","omim":"120290","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2021-06-21","source":"32341816[PMID]","terms":[{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011867","label":"Abnormality of the wing of the ilium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006375","label":"Dumbbell-shaped femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003037","label":"Enlarged joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010502","label":"Fibular bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002834","label":"Flared femoral metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025573","label":"Mild myopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0007964","label":"Degenerative vitreoretinopathy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Excluded (0%)","criteria":null}]}}