{"orpha":2741,"name":"Ophthalmomandibulomelic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OMM syndrome","Pillay syndrome"],"definition":"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2741/","orphanet_url":"https://www.orpha.net/en/disease/detail/2741","names":{"fr":{"name":"Dysplasie ophtalmo-mandibulo-mélique","synonyms":["Syndrome OMM","Syndrome de Pillay"],"definition":"La dysplasie ophtalmo-mandibulo-mélique est caractérisée par une cécité complète due à des opacités cornéennes, une mastication difficile par fusion temporo-mandibulaire et des anomalies des membres supérieurs."},"de":{"name":"Ophthalmo-mandibulo-mele Dysplasie","synonyms":["OMM-Syndrom","Pillay-Syndrom"],"definition":"Die Ophthalmo-mandibulo-mele Dysplasie ist gekennzeichet durch Hornhauttrübung mit vollständiger Blindheit, temporomandibuläre Fusion mit erschwertem Kauen und Armfehlbildungen."},"es":{"name":"Displasia oftalmo-mandíbulo-mélica","definition":"La displasia oftalmo-mandibulo-mélica está caracterizada por ceguera completa debido a opacidades corneales, masticación dificultosa debido a la fusión temporomandibular y malformaciones en los brazos."},"it":{"name":"Displasia oftalmo-mandibolo-melica","synonyms":["Sindrome OMM","Sindrome di Pillay"]},"nl":{"name":"Oftalmomandibulomele dysplasie","synonyms":["OMM-syndroom","Syndroom van Pillay"],"definition":"Een aandoening, gekenmerkt door volledige blindheid als gevolg van hoornvliestroebeling, moeilijkheden met kauwen als gevolg van temporomandibulaire fusie, en anomalieën van armen."},"pt":{"name":"Displasia oftalmo-mandibulo-mélica","synonyms":["Síndrome Pillay"],"definition":"A displasia oftalmomandibulomélica é caracterizada por cegueira completa devido a opacidades da córnea, mastigação difícil por fusão temporomandibular e anomalias dos braços."},"pl":{"name":"Dysplazja oczno-żuchwowo-kończynowa","synonyms":["Zespół OMM","Zespół Pillay'a"]},"cs":{"name":"Oftalmomandibulomelická dysplázie","synonyms":["OMM syndrom","Pillayův syndrom"]},"uk":{"name":"Офтальмомандибуломелічна дисплазія","synonyms":["Синдром ОММ","Синдром Піллай"],"definition":"Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms."},"zh":{"name":"眼下颌支发育不良","synonyms":["Pillay综合征"]},"tr":{"name":"Oftalmomandibulomelik displazi","synonyms":["OMM sendromu","Pillay sendromu"]}},"xrefs":[{"source":"OMIM","code":"164900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"869046719"},{"source":"MONDO","code":"0008127","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563501","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833872","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4365","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"14161103[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14161103[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006441","label":"Lateral humeral condyle aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005446","label":"Obtuse angle of mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006439","label":"Radioulnar dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012478","label":"Temporomandibular joint ankylosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006055","label":"Ulnar deviated club hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Occasional (29-5%)","criteria":null}]}}