{"orpha":2557,"name":"Mietens syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability, Mietens-Weber type"],"definition":"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2557/","orphanet_url":"https://www.orpha.net/en/disease/detail/2557","names":{"fr":{"name":"Syndrome de Mietens","synonyms":["Déficience intellectuelle type Mietens-Weber"],"definition":"Le syndrome de Mietens est un syndrome très rare associant des opacités cornéennes, un nystagmus, un strabisme, une contracture en flexion des coudes avec dislocation de la tête radiale et des radius et cubitus anormalement courts."},"de":{"name":"Mietens-Syndrom","synonyms":["Intelligenzminderung Typ Mietens-Weber"],"definition":"Das Mietens-Syndrom ist sehr selten und gekennzeichnet durch Hornhauttrübung, Nystagmus, Strabismus, Beugekontraktur der Ellenbogen mit Dislokation des Radiusköpfchens sowie abnorm kurzen Ulnae und Radien."},"es":{"name":"Síndrome de Mietens","synonyms":["Discapacidad intelectual tipo Mietens-Weber"],"definition":"Es un síndrome muy poco frecuente caracterizado por opacidad corneal, nistagmo, estrabismo, contractura en flexión de los codos con luxación de la cabeza del radio y cúbitos y radios anormalmente cortos."},"it":{"name":"Sindrome di Mietens","synonyms":["Disabilità intellettiva, tipo Mietens-Weber"]},"nl":{"name":"Syndroom van Mietens","synonyms":["Intellectuele achterstand, Mietens-Weber-type"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door troebeling van cornea, nystagmus, strabisme, flexiecontracturen van ellebogen met luxatie van radiuskop en abnormaal korte ulna en radius."},"pt":{"name":"Síndrome Mietens","synonyms":["Perturbação do desenvolvimento intelectual tipo Mietens-Weber"],"definition":"A síndrome de Mietens é uma síndrome muito rara que consiste em opacidade da córnea, nistagmo, estrabismo, contractura em flexão dos cotovelos com luxação da cabeça do rádio e cúbito e rádio anormalmente curtos."},"pl":{"name":"Zespół Mietensa","synonyms":["Niepełnosprawność intelektualna, typu Mietensa i Webera"]},"cs":{"name":"Mietensův syndrom","synonyms":["Mentální retardace, Mietensův-Weberův typ","Mentální retardace, Mietens-Weberův typ"]},"uk":{"name":"Синдром Мєтена","synonyms":["Інтелектуальна недостатність, тип Мітенса-Вебера"],"definition":"Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii."},"zh":{"name":"Mietens综合征","synonyms":["智力障碍，Mietens-Weber 综合征"]},"tr":{"name":"Mietens sendromu","synonyms":["Zihinsel yetersizlik, Mietens-Weber tipi"]}},"xrefs":[{"source":"OMIM","code":"249600","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":"1399358623"},{"source":"MONDO","code":"0009582","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537444","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265249","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3524","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":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"16760739[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16760739[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-20","source":null,"terms":[{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003070","label":"Elbow ankylosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","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:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null}]}}