{"orpha":521445,"name":"Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521445/","orphanet_url":"https://www.orpha.net/en/disease/detail/521445","names":{"fr":{"name":"Syndrome de microcéphalie-dysmorphie faciale-anomalies oculaires-anomalies congénitales multiples","definition":"Maladie génétique rare caractérisée par un phénotype très variable comprenant des anomalies oculaires (glaucome congénital, myopie, décollement de la rétine et/ou anomalie d'Axenfeld-Rieger), une hypothyroïdie congénitale, une perte auditive, une microcéphalie, des anomalies dentaires, des anomalies rénales, des anomalies cérébrovasculaires et des anomalies des segments distaux des membres. Une dysmorhie faciale à type de visage carré et de mâchoire proéminente, de pont nasal large et plat, de philtrum court et d'oreilles proéminentes peut s'observer."},"de":{"name":"Mikrozephalie-Gesichtsdysmorphie-okuläre Anomalien-multiple kongenitale Anomalien-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch einen sehr variablen Phänotyp gekennzeichnet ist, der Augenanomalien (kongenitales Glaukom, Myopie, Netzhautablösung und/oder Axenfeld-Rieger-Anomalie), kongenitale Hypothyreose, Hörverlust, Mikrozephalie, Zahndefekte, Nierenanomalien, zerebrovaskuläre Anomalien und Anomalien der distalen Gliedmaßen umfasst. Zu den Gesichtsdysmorphien gehören ein kantiges Gesicht mit vorstehendem Kiefer, ein breiter flacher Nasenrücken, ein kurzes Philtrum und abstehende Ohren."},"es":{"name":"Síndrome de microcefalia-dismorfia facial-anomalías oculares-anomalías congénitas múltiples","definition":"Es una enfermedad genética poco frecuente caracterizada por un fenotipo muy variable que comprende anomalías oculares (glaucoma congénito, miopía, desprendimiento de retina y/o anomalía de Axenfeld-Rieger), hipotiroidismo congénito, hipoacusia, microcefalia, defectos dentales, anomalías renales, anomalías cerebrovasculares y anomalías de los segmentos distales de las extremidades. Los rasgos faciales dismórficos pueden incluir rostro cuadrangular con mandíbula prominente, puente nasal ancho y plano, filtrum corto y orejas prominentes."},"it":{"name":"Sindrome microcefalia - dismorfismi facciali - anomalie oculari - anomalie congenite multiple"},"nl":{"name":"Microcefalie - faciale dysmorfie - oculaire anomalieën - multipele congenitale anomalieën-syndroom","definition":"Een zeldzame genetische aandoening, gekenmerkt door een zeer variabel fenotype bestaande uit ooganomalieën (congenitaal glaucoom, myopie, netvliesloslating, en/of Axenfeld-Rieger-anomalie), congenitale hypothyreoïdie, gehoorverlies, microcefalie, defecten van gebitselementen, nieranomalieën, cerebrovasculaire anomalieën, en anomalieën van distale ledematen. Mogelijke dysmorfe gelaatskenmerken zijn onder meer vierkant aangezicht met prominente kaak, brede en platte neusbrug, kort filtrum, en prominente oren."},"pt":{"name":"Síndrome de microcefalia-dismorfia facial-anomalias oculares-anomalias congénitas múltiplas","definition":"Doença genética rara caracterizada por um fenótipo altamente variável que compreende anomalias oculares (glaucoma congénito, miopia, descolamento de retina e/ou anomalia de Axenfeld-Rieger), hipotiroidismo congénito, défice auditivo, microcefalia, defeitos dentários, anomalias renais, anomalias cerebrovasculares e anomalias distais dos membros. As características faciais dismórficas podem incluir face quadrangular com mandíbula proeminente, ponte nasal larga e plana, filtro curto e pavilhões auriculares proeminentes."},"pl":{"name":"Zespół małogłowia-dysmorfii twarzy-wad oczu-licznych wad wrodzonych"},"cs":{"name":"Syndrom zahrnující mikrocefalii, faciální dysmorfismus, oční vady a mnohočetné vrozené vady"},"uk":{"name":"Синдром мікроцефалії-дизморфізму обличчя-аномалій очей-множинних вроджених аномалій","definition":"A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears."},"zh":{"name":"小头畸形-面部畸形-眼球异常-多发性先天畸形综合征"},"tr":{"name":"Mikrosefali-yüz dismorfizmi-oküler anomaliler-çoklu doğumsal anomaliler sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035027","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681443","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371436,"name":"Genetic neurovascular malformation","classifications":[156]},{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"ADAMTSL1","name":"ADAMTS like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28722276[PMID]","hgnc":"14632","ensembl":"ENSG00000178031","omim":"609198","loci":["9p22.2-p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"28722276[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28722276[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-25","source":"28722276[PMID]","terms":[{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010490","label":"Abnormality of the palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000557","label":"Buphthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001848","label":"Calcaneovalgus deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008007","label":"Primary congenital glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000558","label":"Rieger anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000321","label":"Square face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020038","label":"Vertebrobasilar dolichoectasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}