{"orpha":77299,"name":"Microphthalmia-brain atrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MCOPS10","MOBA syndrome","Syndromic microphthalmia type 10"],"definition":"A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77299/","orphanet_url":"https://www.orpha.net/en/disease/detail/77299","names":{"fr":{"name":"Syndrome de microphtalmie-atrophie cérébrale","synonyms":["MCOPS10","Microphtalmie syndromique type 10","Syndrome MOBA"],"definition":"Trouble neurodégénératif génétique rare, caractérisé par une microphtalmie congénitale, des yeux enfoncés, une cécité, une microcéphalie, un déficit intellectuel sévère, une spasticité progressive et des convulsions. Le développement psychomoteur est normal au cours des six à huit premiers mois de vie, mais il décline ensuite rapidement et de manière continue. L'imagerie par résonance magnétique (IRM) cérébrale révèle des changements dégénératifs progressifs et étendus, surtout au niveau du cortex, une atrophie cérébelleuse, du tronc cérébral et du corps calleux, ainsi qu'une perte complète de substance blanche cérébrale."},"de":{"name":"Mikrophthalmie-Hirnatrophie-Syndrom","synonyms":["MOBA-Syndrom"],"definition":"Eine seltene genetisch bedingte neurodegenerative Erkrankung, die durch angeborene Mikrophthalmie, eingesunkene Augen, Blindheit, Mikrozephalie, schwere Intelligenzminderung, progressive Spastik und Krampfanfälle gekennzeichnet ist. Die psychomotorische Entwicklung ist in den ersten 6-8 Lebensmonaten normal und nimmt danach schnell und kontinuierlich ab. Die MRT des Gehirns zeigt fortschreitende und ausgedehnte degenerative Veränderungen, insbesondere eine Atrophie der Hirnrinde, des Kleinhirns, des Hirnstamms und des Corpus Callosum, mit vollständigem Verlust der weißen Hirnsubstanz."},"es":{"name":"Síndrome de microftalmia-atrofia cerebral","synonyms":["Síndrome MOBA"],"definition":"Es un trastorno neurodegenerativo poco frecuente de origen genético caracterizado por microftalmia congénita, ojos hundidos, ceguera, microcefalia, discapacidad intelectual grave, espasticidad progresiva y crisis epilépticas. El desarrollo psicomotor es normal en los primeros 6-8 meses de vida y luego disminuye de forma rápida y continuada. La neuroimagen revela cambios degenerativos progresivos y extensos, especialmente en el córtex, el cerebelo, el tronco encefálico y atrofia del cuerpo calloso, con pérdida completa de la sustancia blanca cerebral."},"it":{"name":"Microftalmia - atrofia cerebrale","synonyms":["Sindrome MOBA"],"definition":"La sindrome da microftalmia e atrofia cerebrale (MOBA) è una malattia neurodegenerativa genetica rara, caratterizzata da microftalmia congenita, infossamento degli occhi, cecità, microcefalia, disabilità intellettiva grave, spasticità progressiva e crisi epilettiche. Nei primi 6-8 mesi di vita, lo sviluppo psicomotorio è normale, ma successivamente il declino è rapido e continuo. La RMN del cervello evidenzia alterazioni degenerative progressive ed estese, in particolare atrofia della corteccia, del cervelletto, del tronco encefalico e del corpo calloso, associate alla perdita completa della sostanza bianca cerebrale."},"nl":{"name":"Microftalmie - hersenatrofie-syndroom","synonyms":["MCOPS10","MOBA-syndroom","Syndromale microftalmie type 10"],"definition":"Een zeldzame, genetische neurodegeneratieve aandoening, gekenmerkt door congenitale microftalmie, ingevallen ogen, blindheid, microcefalie, ernstige intellectuele achterstand, progressieve spasticiteit, en insulten. Psychomotorische ontwikkeling is normaal tijdens de eerste 6-8 levensmaanden, en gaat daarna snel en continu achteruit. MRI van hersenen toont progressieve en extensieve degeneratieve veranderingen, vooral atrofie van cortex, cerebellum, hersenstam, en corpus callosum, met volledig verlies van cerebrale witte stof."},"pt":{"name":"Síndrome de microftalmia-atrofia cerebral","synonyms":["Microftalmia sindromática tipo 10","Síndrome MOBA"]},"pl":{"name":"Małoocze - atrofia mózgu","synonyms":["MCOPS10","Syndromiczne małoocze typu 10","Zespół MOBA"],"definition":"Rzadka, genetycznie uwarunkowana choroba neurodegeneracyjna, która charakteryzuje się wrodzonym małooczem, zapadniętymi oczami, ślepotą, małogłowiem, ciężką niepełnosprawnością intelektualną, postępującą spastycznością i drgawkami. Rozwój psychoruchowy jest prawidłowy w pierwszych 6-8 miesiącach życia, a następnie gwałtownie i systematycznie się pogarsza. MRI mózgu ujawnia postępujące i rozległe zmiany zwyrodnieniowe, zwłaszcza dotyczące kory mózgowej, móżdżku, pnia mózgu i ciała modzelowatego, z całkowitą utratą istoty białej mózgu."},"cs":{"name":"Syndrom zahrnující mikroftalmii a mozkovou atrofii","synonyms":["MCOPS10","MOBA syndrom","Syndromická mikroftalmie, typ 10"]},"uk":{"name":"Синдром мікрофтальмії та атрофії головного мозку","synonyms":["MCOPS10","Синдром MOBA","Синдромна мікрофтальмія типу 10"],"definition":"A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter."},"zh":{"name":"小眼-脑萎缩综合征","synonyms":["综合征性小眼症10型"]},"tr":{"name":"Mikroftalmi-beyin atrofisi sendromu","synonyms":["MCOPS10","MOBA sendromu","Sendromik mikroftalmi tip 10"]}},"xrefs":[{"source":"OMIM","code":"611222","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"760450260"},{"source":"MONDO","code":"0012638","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566985","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970013","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9292","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"16566018[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16566018[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-27","source":"16566018[PMID]","terms":[{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007162","label":"Diffuse demyelination of the cerebral white matter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031165","label":"Multifocal seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011174","label":"Hyperkinetic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100703","label":"Tongue thrusting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031358","label":"Vegetative state","frequency":"Occasional (29-5%)","criteria":null}]}}