{"orpha":141132,"name":"Craniofacial microsomia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OAVS","OAV spectrum","Oculoauriculovertebral spectrum","Oculo-auriculo-vertebral spectrum"],"definition":"A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141132/","orphanet_url":"https://www.orpha.net/en/disease/detail/141132","names":{"fr":{"name":"Microsomie craniofaciale","synonyms":["Spectre OAV","Spectre oculoauriculovertébral","OAVS"],"definition":"Syndrome de malformation congénitale rare, se manifestant le plus souvent par une microsomie hémifaciale associée à des malformations auriculaires et oculaires, et des anomalies vertébrales de gravité variable. Il peut être associé à d'autres malformations affectant le coeur, les reins, le système nerveux central, le système digestif et le squelette."},"de":{"name":"Kraniofaziale Mikrosomie","synonyms":["Okulo-aurikulo-vertebrales Spektrum","OAV-Spektrum","OAVS"],"definition":"Ein seltenes kongenitales Fehlbildungssyndrom, das meist mit hemifazialer Mikrosomie in Verbindung mit Ohr- und/oder Augenfehlbildungen und Wirbelsäulenanomalien unterschiedlichen Schweregrades auftritt. Weitere Fehlbildungen des Herzens, der Nieren, des zentralen Nervensystems, des Verdauungssystems und des Skelettsystems können ebenfalls auftreten."},"es":{"name":"Microsomía craneofacial","synonyms":["Espectro OAV","Espectro oculoauriculovertebral","Espectro óculo-aurículo-vertebral"],"definition":"Es un síndrome malformativo congénito poco frecuente, que se presenta típicamente con microsomía hemifacial asociada a malformaciones óticas y/u oculares y a anomalías vertebrales de gravedad variable. El síndrome también puede asociar otras malformaciones adicionales, afectando al corazón, los riñones, al sistema nervioso central, digestivo y esquelético."},"it":{"name":"Microsomia craniofacciale","synonyms":["Spettro oculo-auricolo-vertebrale","OAVS","Spettro OAV","Spettro oculoauricolovertebrale"],"definition":"Si tratta di una sindrome rara da malformazioni congenite, caratterizzata da microsomia emifacciale associata a malformazioni dell'orecchio e/o dell'occhio e ad anomalie vertebrali di gravità variabile. I pazienti possono presentare anche malformazioni cardiache, renali, del sistema nervoso centrale, del tratto digestivo e dello scheletro."},"nl":{"name":"Craniofaciale microsomie","synonyms":["OAVS","OAV-spectrum","Oculoauriculovertebraal spectrum","Oculo-auriculo-vertebraal spectrum"],"definition":"Een zeldzaam, congenitaal malformatiesyndroom, dat zich doorgaans presenteert met hemifaciale microsomie geassocieerd met oor- en/of oogmalformaties en vertebrale anomalieën met variabele gradaties van ernst. Bijkomende malformaties van hart, nier, centraal zenuwstelsel, spijsverteringsstelsel en skelet kunnen ook geassocieerd zijn."},"pt":{"name":"Espectro clínico oculo-auriculo-vertebral"},"pl":{"name":"Spektrum oczno-uszno-kręgowe","synonyms":["Jednostronna lub obustronna i asymetryczna dysplazja uszno-żuchwowa","Spektrum OAV"]},"cs":{"name":"Okulo-aurikulo-vertebrální spektrum","synonyms":["OAV spektrum","Unilaterální nebo bilaterální a asymetrická otomandibulární dysplázie"]},"uk":{"name":"Окуло-аурикуло-вертебральний спектр","synonyms":["Синдром Гольденхара","Спектр OAV","Окулоаурикуловертебральний спектр"],"definition":"A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated."},"zh":{"name":"眼-耳-脊柱谱系异常","synonyms":["眼-耳-脊柱序列征"],"definition":"一种罕见的先天性畸形综合征，最常见的表现为半侧面部肢体发育不良伴耳和/或眼畸形和严重程度不同的脊椎异常。心脏、肾脏、中枢神经、消化系统和骨骼系统的其他畸形也可能与该病相关。"},"tr":{"name":"Okülo-aurikulo-vertebral spektrum","synonyms":["OAV spektrumu","Oküloaurikulovertebral spektrum"]}},"xrefs":[{"source":"OMIM","code":"164210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"17557903"},{"source":"UMLS","code":"C0265240","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12074","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051934","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":374,"name":"Goldenhar syndrome","status":"inactive"},{"type":"Moved to","orpha":141136,"name":"Otomandibular syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"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":155896,"name":"Otomandibular dysplasia","classifications":[147,156,199,200,209]},{"orpha":519329,"name":"Rare disorder involving multiple structures of the eye","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Japan","status":"Validated","source":"2092586[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.7,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-30","source":"29847352[PMID]_35110414[PMID]","terms":[{"hpo":"HP:0011332","label":"Hemifacial hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001140","label":"Limbal dermoid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009118","label":"Aplasia/Hypoplasia of the mandible","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009117","label":"Aplasia/Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009892","label":"Anotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033792","label":"Cross bite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null}]}}