{"orpha":908,"name":"Fragile X syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FRAXA syndrome","FXS","FraX syndrome","Martin-Bell syndrome"],"definition":"A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-908/","orphanet_url":"https://www.orpha.net/en/disease/detail/908","names":{"fr":{"name":"Syndrome de l'X fragile","synonyms":["FXS","Syndrome FRAXA","Syndrome FraX","Syndrome de Martin-Bell"],"definition":"Une maladie génétique rare associée à une déficience intellectuelle légère à sévère qui peut être associée à des troubles du comportement et à des caractéristiques physiques telles qu'un front haut, des oreilles proéminentes et larges, une hyperextensibilité des articulations des doigts, des pieds plats avec pronation et, chez les hommes adolescents et adultes, une macro-orchidie."},"de":{"name":"Fragiles X-Syndrom","synonyms":["FRAXA-Syndrom","FXS","Fra(X)-Syndrom","Martin-Bell-Syndrom"],"definition":"Das Fragile-X-Syndrom (FXS) ist eine seltene genetische Erkrankung, die mit leichter bis schwere Intelligenzminderung einhergeht und mit Verhaltensstörungen und charakteristischen körperlichen Merkmalen (hohe Stirn, abstehende und große Ohren, überstreckbare Fingergelenken, Pes planus mit Pronation, Makroorchidie bei männlichen Jugendlichen und Erwachsenen) verbunden sein kann."},"es":{"name":"Síndrome X frágil","synonyms":["SXF","Síndrome FRAXA","Síndrome FraX","Síndrome de Martin-Bell","Síndrome del cromosoma X frágil"],"definition":"Es una enfermedad de origen genético poco frecuente que cursa con discapacidad intelectual de leve a grave, pudiendo asociar trastornos de conducta y rasgos físicos característicos incluyendo frente ancha, orejas prominentes y grandes, hiperextensibilidad de las articulaciones de los dedos de las manos, pies planos con pronación y, en varones adolescentes y adultos, macroorquidia."},"it":{"name":"Sindrome dell'X fragile","synonyms":["FXS","Sindrome FRAXA","Sindrome FraX","Sindrome di Martin-Bell"],"definition":"La sindrome dell'X fragile (FXS) è una malattia genetica rara associata a disabilità intellettiva lieve-grave, disturbi comportamentali e dismorfismi caratteristici, che comprendono la fronte alta, le orecchie grandi e prominenti, l'iperestensibilità delle articolazioni delle dita delle mani, i piedi piatti con pronazione e, nei maschi adolescenti e adulti, il macroorchidismo."},"nl":{"name":"Fragiele-X-syndroom","synonyms":["FRAXA-syndroom","FXS","FraX-syndroom","Syndroom van Martin-Bell"],"definition":"Een zeldzame, genetische ziekte, geassocieerd met milde tot ernstige intellectuele achterstand, die gepaard kan gaan met gedragsstoornissen en karakteristieke lichamelijke kenmerken waaronder hoog voorhoofd, afstaande en grote oren, hyperlaxiteit van vingergewrichten, platvoet met pronatie en, bij adolescente en volwassen mannen, macro-orchidie."},"pt":{"name":"Síndrome de X-frágil","synonyms":["Síndrome de FraX"],"definition":"A síndrome do X frágil (FXS) é uma doença genética rara associada a defice cognitivo ligeiro a grave, que pode estar associado a distúrbios comportamentais e características físicas tipicas."},"pl":{"name":"Zespół łamliwego chromosomu X","synonyms":["FXS","Zespół FraX","Zespół FRAXA","Zespół Martina i Bell"],"definition":"Rzadka choroba genetyczna związana z łagodną lub ciężką niepełnosprawnością intelektualną, która może być powiązana z zaburzeniami zachowania i charakterystycznymi cechami fizycznymi, w tym wysokim czołem, wydatnymi i dużymi uszami, nadmiernie ruchomymi stawami palców, płaskostopiem z ustawieniem w pronacji oraz makroorchidyzmem u nastolatków i dorosłych mężczyzn."},"cs":{"name":"Syndrom fragilního X","synonyms":["FRAXA syndrom","FXS","FraX syndrom","Syndrom Martinův-Bellové","Syndrom Martin-Bellové"]},"uk":{"name":"Синдром ламкої Х-хромосоми","synonyms":["Синдром FraX","Синдром FRAXA","FXS","Синдром Мартіна-Белла"],"definition":"A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism."},"zh":{"name":"脆性X综合征","synonyms":["Martin-Bell综合征"]},"tr":{"name":"Frajil X sendromu","synonyms":["FXS","FraX sendromu","FRAXA sendromu","Martin-Bell sendromu"]}},"xrefs":[{"source":"OMIM","code":"300624","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"311360","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD55","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1524287677"},{"source":"MONDO","code":"0010383","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005600","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016667","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6464","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10017324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":449291,"name":"OBSOLETE: Symptomatic form of fragile X syndrome in female carriers","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":306765,"name":"Motor stereotypies","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"FMR1","name":"fragile X messenger ribonucleoprotein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301558[PMID]","hgnc":"3775","ensembl":"ENSG00000102081","omim":"309550","loci":["Xq27.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":32.5,"area":"Worldwide","status":"Validated","source":"18413371[PMID]_[EXPERT]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.7,"area":"United States","status":"Validated","source":"19804849[PMID]_23765048[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.0,"area":"Spain","status":"Validated","source":"19460941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.11,"area":"Canada","status":"Validated","source":"19863547[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-10","source":"20301558[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003564","label":"Folate-dependent fragile site at Xq28","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002003","label":"Large forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","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:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}