{"orpha":2556,"name":"Microphthalmia with linear skin defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MCOPS7","MIDAS syndrome","MLS syndrome","Microphthalmia-dermal aplasia-sclerocornea syndrome","Syndromic microphthalmia type 7"],"definition":"A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2556/","orphanet_url":"https://www.orpha.net/en/disease/detail/2556","names":{"fr":{"name":"Microphtalmie avec défauts linéaires cutanés","synonyms":["MCOPS7","Microphtalmie syndromique type 7","Syndrome MIDAS","Syndrome MLS","Syndrome de microphtalmie-aplasie dermique-sclérocornée"],"definition":"Syndrome rare caractérisé par des anomalies oculaires (microphtalmie, kystes orbitaux, opacités cornéennes), une dysplasie cutanée linéaire du cou, de la face et du menton. Les autres manifestations incluent agénésie du corps calleux, sclérocornée, anomalies choriorétiniennes, hydrocéphalie, épilepsie, déficit intellectuel et dystrophie unguéale. Ce syndrome est létal chez les garçons."},"de":{"name":"Mikrophthalmie-lineares Hautdefekt-Syndrom","synonyms":["MCOPS7","MIDAS-Syndrom","MLS-Syndrom","Mikrophthalmie - Hautaplasie - Sklerokornea","Mikrophthalmie, syndromale, Typ 7"],"definition":"Das MIDAS-Syndrom (Mikrophthalmie, dermale Aplasie, Sklerokornea), auch Mikrophthalmie-Lineare Hautdefekte-Syndrom genannt, ist charakterisiert durch Augendefekte (Mikrophthalmie, Orbitazysten, Hornhauttrübungen) und lineare Hautdysplasie an Hals, Kopf und Kinn. Weniger als 50 Patienten wurden bisher beschrieben. Weitere mögliche Symptome sind Agenesie des Corpus callosum, Sklerokornea, chorioretinale Veränderungen, Hydrozephalus, zerebrale Krämpfe, geistige Behinderung und Nageldystrophie. Die Krankheit wird X-chromosomal-dominant mit Letalität im männlichen Geschlecht vererbt."},"es":{"name":"Síndrome de microftalmia con defectos cutáneos lineales","synonyms":["MCOPS7","Microftalmia sindrómica tipo 7","Síndrome MIDAS","Síndrome MLS","Síndrome de microftalmia-aplasia dérmica-esclerocórnea"],"definition":"Es un trastorno ocular sindrómico poco frecuente ligado al cromosoma X que se caracteriza por defectos oculares (microftalmía, quistes orbitarios, opacidades corneales) y displasia cutánea lineal del cuello, la cabeza y el mentón. Otros hallazgos adicionales incluyen agenesia del cuerpo calloso, esclerocórnea, anomalías coriorretinianas, hidrocefalia, crisis epilépticas, discapacidad intelectual y distrofia ungueal."},"it":{"name":"Sindrome da microftalmia con difetti cutanei lineari","synonyms":["MCOPS7","Microftalmia - aplasia dermica - sclerocornea","Microftalmia sindromica, tipo 7","Sindrome MIDAS","Sindrome MLS"]},"nl":{"name":"Microftalmie met lineaire huiddefecten-syndroom","synonyms":["MCOPS7","MIDAS-syndroom","MLS-syndroom","Microftalmie - dermale aplasie - sclerocornea-syndroom","Syndromale microftalmie type 7"],"definition":"MIDAS-syndroom (microftalmie, dermale aplasie en sclerocornea), ook gekend als microftalmie met lineaire huiddefecten-syndroom, wordt gekenmerkt door oogdefecten (microftalmie, cyste van orbita, hoornvliestroebeling) en lineaire dysplasie van huid van hals, hoofd en kin. Het werd gerapporteerd bij minder dan 50 patiënten. Mogelijke bijkomende bevindingen zijn onder meer agenesie van corpus callosum, sclerocornea, chorioretinale afwijkingen, hydrocefalie, insulten, intellectuele achterstand, en nageldystrofie. Het wordt overgedragen als een X-gebonden dominant kenmerk met mannelijke letaliteit."},"pt":{"name":"Síndrome de microftalmia com defeitos cutâneos lineares","synonyms":["Síndrome MIDAS","Síndrome MLS"]},"pl":{"name":"Zespół małoocza z liniowym defektem skórnym","synonyms":["MCOPS7","Mikroftalmia - aplazja skóry - sclerocornea","Syndromiczna mikroftalmia typu 7","Zespół MIDAS","Zespół MLS"]},"cs":{"name":"Syndrom zahrnující mikrooftalmii s lineárními defekty kůže","synonyms":["MCOPS7","MIDAS syndrom","MLS syndrom","Syndrom zahrnující mikrooftalmii, dermální aplázii a sklerokorneu","Syndromická mikrooftalmie, typ 7"]},"uk":{"name":"Мікрофтальмія з синдромом лінійних дефектів шкіри","synonyms":["MCOPS7","Синдром мікрофтальмії-дермальної аплазії-склерокорнеа","Синдром MIDAS","Синдром MLS","Синдромна мікрофтальмія типу 7"],"definition":"A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy."},"zh":{"name":"小眼畸形伴线性皮肤缺损综合征","synonyms":["小眼畸形-皮肤发育不全-硬化性角膜综合征"]},"tr":{"name":"Lineer cilt defekti sendromlu mikroftalmi","synonyms":["MCOPS7","MLS sendromu","MIDAS sendromu","Sendromik mikroftalmi tip 7","Mikroftalmi-dermal aplazi-sklerokornea sendromu"]}},"xrefs":[{"source":"OMIM","code":"300887","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300952","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"309801","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":"526014677"},{"source":"MONDO","code":"0010672","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537466","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796070","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3659","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"NDUFB11","name":"NADH:ubiquinone oxidoreductase subunit B11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25772934[PMID]","hgnc":"20372","ensembl":"ENSG00000147123","omim":"300403","loci":["Xp11.3"]},{"symbol":"COX7B","name":"cytochrome c oxidase subunit 7B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23122588[PMID]","hgnc":"2291","ensembl":"ENSG00000131174","omim":"300885","loci":["Xq21.1"]},{"symbol":"HCCS","name":"holocytochrome c synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17033964[PMID]","hgnc":"4837","ensembl":"ENSG00000004961","omim":"300056","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":55.0,"area":"Worldwide","status":"Validated","source":"23122588[PMID]"},{"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":"2017-07-19","source":null,"terms":[{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009939","label":"Mandibular aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011531","label":"Vitritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004378","label":"Abnormality of the anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002034","label":"Abnormality of the rectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007731","label":"Chorioretinal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011265","label":"Cleft earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000627","label":"Posterior embryotoxon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007973","label":"Retinal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}