{"orpha":85280,"name":"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85280/","orphanet_url":"https://www.orpha.net/en/disease/detail/85280","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-cubitus valgus-dysmorphie","definition":"Le syndrome de déficience intellectuelle liée à l'X-cubitus valgus-dysmorphie est caractérisé par une déficience intellectuelle modérée, un <I>cubitus valgus</I> prononcé, une microcéphalie légère, un philtrum court, des yeux enfoncés, des fentes palpébrales anti-mongoloïdes et de multiples névi. Moins de dix sujets ont été décrits jusqu'à présent. La transmission semble récessive liée à l'X."},"de":{"name":"X-chromosomale Intelligenzminderung-Cubitus valgus-Dysmorphie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch moderate Intelligenzminderung, ausgeprägten Cubitus valgus, leichte Mikrozephalie, kurzes Philtrum, tiefliegende Augen, anti-mongoloide Lidachsen und multiple Naevi."},"es":{"name":"Síndrome de discapacidad intelectual-cubitus valgus-dismorfia ligado al cromosoma X","definition":"Es un síndrome caracterizado por un déficit intelectual moderado, cúbito valgo marcado, microcefalia leve, filtrum corto, ojos hundidos, fisuras palpebrales descendentes y múltiples nevus. Hasta la fecha se ha descrito en menos de diez pacientes. Se cree que la transmisión es recesiva ligada al cromosoma X."},"it":{"name":"Sindrome disabilità intellettiva legata all'X- cubito valgo-dismorfismi"},"nl":{"name":"X-gebonden intellectuele achterstand - cubitus valgus - dysmorfie-syndroom","definition":"X-gebonden intellectuele achterstand - cubitus valgus - dysmorfie-syndroom wordt gekenmerkt door matige intellectuele achterstand, opmerkelijke cubitus valgus, milde microcefalie, kort filtrum, diepliggende ogen, schuin naar beneden hellende ooglidspleten, en multipele naevi. Tot op heden werden minder dan tien gevallen beschreven. Overerving gebeurt vermoedelijk X-gebonden recessief."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-cúbito valgo-dismorfias ligada ao X"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - łokieć koślawy - dysmorfia"},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, cubitus valgus a dysmorfismus"},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-вальгусного кубітусу-дизморфізму","definition":"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked <i>cubitus valgus</i>, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive."},"zh":{"name":"X连锁智力障碍-肘外翻-外貌畸形综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-kubitus valgus-dismorfizm sendromu"}},"xrefs":[{"source":"OMIM","code":"300471","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304935","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"14556244[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14556244[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"14556244[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null}]}}