{"orpha":776,"name":"Lujan-Fryns syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked intellectual disability with marfanoid habitus"],"definition":"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-776/","orphanet_url":"https://www.orpha.net/en/disease/detail/776","names":{"fr":{"name":"Syndrome de Lujan-Fryns","synonyms":["Syndrome marfanoïde avec déficience intellectuelle liée à l'X"],"definition":"Le syndrome de Lujan-Fryns ou syndrome marfanoïde avec déficit intellectuel lié à l'X est une forme syndromique de déficit intellectuel liée à l'X, associée à une grande taille marfanoïde, une dysmorphie faciale caractéristique et des troubles comportementaux."},"de":{"name":"Lujan-Fryns-Syndrom","synonyms":["X-chromosomale Intelligenzminderung mit marfanoidem Habitus"],"definition":"Das Lujan-Fryns-Syndrom ist eine syndromale Form der X-chromosomalen Intelligenzminderung (X-linked mental retardation; XLMR), die mit einer hohen, marfanoiden Statur, ausgeprägten Gesichtsdysmorphien und Verhaltensproblemen einhergeht."},"es":{"name":"Síndrome de Lujan-Fryns","synonyms":["Discapacidad intelectual con hábito marfanoide ligada al cromosoma X"],"definition":"El síndrome de déficit intelectual ligado al X con hábito marfanoide o síndrome de Lujan-Fryns es una forma sindrómica de discapacidad intelectual ligada al X, asociada una estatura alta de aspecto marfanoide, un marcado dismorfismo facial y problemas de comportamiento."},"it":{"name":"Sindrome di Lujan-Fryns","synonyms":["Disabilità intellettiva legata all'X con habitus marfanoide"],"definition":"Il deficit cognitivo legato all'X con habitus marfanoide o sindrome di Lujan-Fryns è una forma sindromica di deficit cognitivo legato all'X, associato ad alta statura di tipo marfanoide, dismorfismi facciali e disturbi comportamentali."},"nl":{"name":"Syndroom van Lujan-Fryns","synonyms":["X-gebonden intellectuele achterstand met marfanoïde habitus"],"definition":"X-gebonden intellectuele achterstand met marfanoïde habitus of Lujan-Frynssyndroom is een syndromale X-gebonden vorm van verstandelijke handicap, geassocieerd met een grote, marfanoïde gestalte, een opmerkelijke gelaatsdysmorfie en gedragsproblemen."},"pt":{"name":"Síndrome Lujan-Fryns","synonyms":["Perturbação do desenvolvimento intelectual ligada ao X com habitus marfanoide"],"definition":"O atraso mental ligado ao X com hábito marfanóide ou síndrome de Lujan-Fryns é uma forma sindrómica de deficiência intelectual ligada ao X (XLMR), associada a estatura alta marfanóide, dismorfismo facial distinto e problemas comportamentais."},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X z wyglądem marfanoidalnym","synonyms":["Zespół Lujana","Zespół Lujana i Frynsa"]},"cs":{"name":"X-vázaná mentální retardace s marfanoidním habitem","synonyms":["XLMR s marfanoidním habitem","Lujanův syndrom","Lujanův-Frynsův syndrom","Lujan-Frynsův syndrom"]},"uk":{"name":"Синдром Луяна-Фринса","synonyms":["Х-зчеплена розумова відсталість з марфаноїдним габітусом"],"definition":"The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems."},"zh":{"name":"X连锁智力障碍伴马凡综合征样体质","synonyms":["Lujan-Fryns综合征"]},"tr":{"name":"Marfanoid habitus ile X'e bağlı zihinsel yetersizlik","synonyms":["Lujan sendromu","Lujan-Fryns sendromu"]}},"xrefs":[{"source":"OMIM","code":"300799","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"309520","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010655","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537724","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796022","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3307","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":163953,"name":"X-linked intellectual disability, Raymond type","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]}],"children":[],"genes":[{"symbol":"MED12","name":"mediator complex subunit 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17369503[PMID]","hgnc":"11957","ensembl":"ENSG00000184634","omim":"300188","loci":["Xq13.1"]},{"symbol":"UPF3B","name":"UPF3B regulator of nonsense mediated mRNA decay","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17704778[PMID]","hgnc":"20439","ensembl":"ENSG00000125351","omim":"300298","loci":["Xq24"]},{"symbol":"ZDHHC9","name":"zDHHC palmitoyltransferase 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23506379[PMID]_17436253[PMID]","hgnc":"18475","ensembl":"ENSG00000188706","omim":"300646","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}