{"orpha":53271,"name":"Muenke syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53271/","orphanet_url":"https://www.orpha.net/en/disease/detail/53271","names":{"fr":{"name":"Syndrome de Muenke","definition":"Craniosténose syndromique de variabilité phénotypique significative, généralement caractérisée par une synostose coronale, une rétrusion médiofaciale, un strabisme, une perte auditive et un retard de développement."},"de":{"name":"Muenke-Syndrom","definition":"Das Muenke-Syndrom ist eine syndromale Kraniosynostose mit signifikanter phänotypischer Variabilität, die in der Regel durch den vorzeitigen Verschluß der Kranznaht während der Entwicklung des Schädels (koronare Kraniosynostose), Retrusion des Mittelgesichts, Strabismus, Hörverlust und Entwicklungsverzögerung gekennzeichnet ist."},"es":{"name":"Síndrome de Muenke","definition":"El síndrome de Muenke es una craneosinostosis sindrómica con una variabilidad fenotípica significativa, por lo general caracterizado por sinostosis coronal, retrusión mediofacial, estrabismo, pérdida auditiva y retraso del desarrollo."},"it":{"name":"Sindrome di Muenke","definition":"La sindrome di Muenke è una craniosinostosi sindromica con significativa variabilità fenotipica, di solito caratterizzata da sinostosi coronale, retrusione medio-facciale, strabismo, sordità e ritardo dello sviluppo."},"nl":{"name":"Syndroom van Muenke","definition":"Syndroom van Muenke is een syndromale craniosynostose met een significante fenotypische variabiliteit en wordt meestal gekarakteriseerd door coronale synostose, terugliggend middengezicht, strabisme, gehoorverlies en ontwikkelingsachterstand."},"pt":{"name":"Síndrome Muenke","synonyms":["Craniosinostose coronal não-sindrómica de Muenke"]},"pl":{"name":"Zespół Muenke"},"cs":{"name":"Muenkeův syndrom"},"uk":{"name":"Синдром Мюнке","definition":"Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay."},"zh":{"name":"Muenke综合征"},"tr":{"name":"Muenke sendromu"}},"xrefs":[{"source":"OMIM","code":"602849","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1860572017"},{"source":"MONDO","code":"0011274","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537369","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864436","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7097","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088781","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1535,"name":"Craniosynostosis-dysmorphism-brachydactyly syndrome","status":"inactive"}],"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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301588[PMID]_20301628[PMID]_21438135[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.33,"area":"Worldwide","status":"Validated","source":"15241680[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009702","label":"Carpal synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}