{"orpha":139471,"name":"Microphthalmia with brain and digit anomalies","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bakrania-Ragge syndrome","MCOPS6","Syndromic microphthalmia type 6"],"definition":"Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the <I> BMP4</I> gene, which has already been shown to play a role in eye development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139471/","orphanet_url":"https://www.orpha.net/en/disease/detail/139471","names":{"fr":{"name":"Microphtalmie avec anomalies cérébrales et des mains","synonyms":["MCOPS6","Microphtalmie syndromique type 6","Syndrome de Bakrania-Ragge"],"definition":"La microphtalmie avec anomalies cérébrales et des mains se caractérise par une anophtalmie ou une microphtalmie, une dystrophie rétinienne et/ou une myopie, pouvant être associées à des anomalies cérébrales. Une polydactylie peut également être présente. Ce syndrome a été décrit chez deux familles. Grâce à une analyse de liaison, des mutations dans le gène <i>BMP4</i> connu pour être impliqué dans le développement de l'oeil, ont été identifiées."},"de":{"name":"Bakrania-Ragge-Syndrom","synonyms":["MCOPS6","Mikrophthalmie mit Anomalien des Gehirns und der Finger","Mikrophthalmie, syndromale, Typ 6"],"definition":"Dieses Syndrom ist gekennzeichnet durch Anophthalmie oder Mikrophthalmie, Retinadystrophie und/oder Myopie, in einigen Fällen verbunden mit Hirnanomalien."},"es":{"name":"Microftalmía con anomalías cerebrales y de las manos","synonyms":["Microftalmía sindrómica tipo 6","Síndrome de Bakrania-Ragge"],"definition":"Es un trastorno caracterizado por anoftalmía o microftalmía, distrofia retiniana y/o miopía, asociado en algunos casos a anomalías cerebrales. Se ha descrito en dos familias. También puede asociar polidactilia. El análisis de ligamiento permitió la identificación de mutaciones en el gen <i>BMP4</i>, que desempeña un papel en el desarrollo ocular."},"it":{"name":"Microftalmia con anomalie cerebrali e delle mani","synonyms":["MCOPS6","Microftalmia sindromica, tipo 6","Sindrome di Bakrania-Ragge"]},"nl":{"name":"Microftalmie met anomalieën van hersenen en digitus","synonyms":["MCOPS6","Syndromale microftalmie type 6","Syndroom van Bakrania-Ragge"],"definition":"Microftalmie met anomalieën van hersenen en digitus wordt gekenmerkt door anoftalmie of microftalmie, retinale dystrofie, en/of myopie, in sommige gevallen geassocieerd met cerebrale anomalieën. Het werd beschreven bij twee families. Polydactylie kan ook aanwezig zijn. Koppelingsanalyse heeft geleid tot identificatie van mutaties in het gen <i>BMP4</i>, waarvan reeds werd aangetoond dat het een rol speelt in oogontwikkeling."},"pt":{"name":"Síndrome de Bakrania-Ragge","definition":"Esta síndrome é caracterizada por anoftalmia ou microftalmia, distrofia da retina e/ou miopia, associada em alguns casos com anomalias cerebrais."},"pl":{"name":"Mikroftalmia z anomaliami mózgu i palców","synonyms":["MCOPS6","Mikroftalmia syndromiczna typu 6","Zespół Bakrania i Ragge"]},"cs":{"name":"Mikroftalmie s anomáliemi mozku a prstů","synonyms":["Bakraniaové-Raggeové syndrom","MCOPS6","Syndromická mikroftalmie, typ 6","Bakrania-Raggeové syndrom"]},"uk":{"name":"Мікрофтальм з аномаліями головного мозку та пальців","synonyms":["Синдром Бакранія-Рагге","MCOPS6","Синдромна мікрофтальмія типу 6"],"definition":"Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the <I> BMP4</I> gene, which has already been shown to play a role in eye development."},"zh":{"name":"小眼畸形伴脑和手指异常","synonyms":["症状性小眼6型"],"definition":"小眼畸形伴脑和手指异常的特征是无眼或小眼畸形、视网膜营养性萎缩和/或近视，在某些情况下伴有脑异常。该病在两个家族中都有描述。也可能出现多指(趾)畸形。连锁分析可以识别出 sup I inf BMP4 sup /I inf 基因突变，该基因已被证明参与眼发育。"},"tr":{"name":"Beyin ve parmak anomali ile seyreden mikroftalmi","synonyms":["MCOPS6","Bakrania-Ragge sendromu","Sendromik mikroftalmi tip 6"]}},"xrefs":[{"source":"OMIM","code":"607932","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011936","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566440","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864689","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3645","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"BMP4","name":"bone morphogenetic protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18252212[PMID]","hgnc":"1071","ensembl":"ENSG00000125378","omim":"112262","loci":["14q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18252212[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"18252212[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007068","label":"Inferior vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}