{"orpha":289522,"name":"Microtriplication 11q24.1 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Tetrasomy 11q24.1"],"definition":"Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289522/","orphanet_url":"https://www.orpha.net/en/disease/detail/289522","names":{"fr":{"name":"Syndrome de microtriplication 11q24.1","synonyms":["Tétrasomie 11q24.1"],"definition":"Une tétrasomie autosomique partielle extrêmement rare, causée par la triplication partielle du bras long du chromosome 11. Elle se caractérise par un déficit intellectuel (avec atteinte verbale sévère), une petite taille avec des extrémités courtes, un kératocône et une dysmorphie faciale caractéristique (visage rond, fentes palpébrales obliques en haut et en dehors, léger synophrys, nez large avec des ailes épaisses et une pointe de forme triangulaire, bouche large avec des lèvres épaisses, philtrum court et lisse, oreilles avec des lobes attachés, menton large et protrusif). Les patients présentent aussi un surpoids et une hypercholestérolémie."},"de":{"name":"Mikrotriplikation 11q24.1","synonyms":["Tetrasomie 11q24.1"]},"es":{"name":"Síndrome de microtriplicación 11q24.1","synonyms":["Tetrasomía 11q24.1"],"definition":"Es una tetrasomía autosómica parcial muy poco frecuente, que resulta de una triplicación parcial del brazo largo del cromosoma 11. Está caracterizada por discapacidad intelectual (con trastorno grave del habla), talla baja con extremidades cortas, queratocono y rasgos faciales dismórficos (cara redonda y tosca, fisuras palpebrales inclinadas hacia arriba, leve sinofridia, nariz grande con ala nasal gruesa y punta triangular, boca grande con labios gruesos, surco nasolabial corto y liso, mentón grande y prominente, orejas con lóbulos adheridos). Además, los afectados presentan sobrepeso e hipercolesterolemia."},"it":{"name":"Sindrome microtriplicazione 11q24.1","synonyms":["Tetrasomia 11q24.1"],"definition":"La microtriplicazione 11q24.1 è una tetrasomia parziale autosomica molto rara, causata dalla triplicazione parziale del braccio lungo del cromosoma 11, caratterizzata da disabilità intellettiva associata a grave deficit verbale, bassa statura con arti corti, cheratocono e dismorfismi facciali caratteristici (viso arrotondato con lineamenti grossolani, rime palpebrali oblique verso l'alto, sinofria lieve, naso grande con ispessimento delle ali e punta triangolare, bocca larga con labbra carnose, filtro corto e liscio, mento grande e sporgente, lobi delle orecchie aderenti). Inoltre, i pazienti mostrano un sovrappeso e presentano ipercolesterolemia."},"nl":{"name":"Microtriplicatie 11q24.1-syndroom","synonyms":["Tetrasomie 11q24.1"],"definition":"Microtriplicatie 11q24.1 is een uiterst zeldzame, partiële, autosomale tetrasomie als gevolg van een partiële triplicatie van de lange arm van chromosoom 11, en wordt gekarakteriseerd door intellectuele achterstand (met ernstige verbale beperking), kleine gestalte met kleine ledematen, keratoconus en typische gelaatskenmerken (rond en ruw gelaat, schuin oplopende ooglidspleten, milde synophrys, grote neus met dikke neusvleugels en driehoekige punt, grote mond met brede lippen, kort en glad filtrum, grote uitstekende kin, oren met vastzittende oorlellen). Daarnaast hebben patiënten overgewicht en vertonen ze hypercholesterolemie."},"pt":{"name":"Microtriplicação 11q24.1","synonyms":["Tetrassomia 11q24.1"]},"pl":{"name":"Zespół mikrotriplikacji 11q24.1","synonyms":["Tetrasomia 11q24.1"],"definition":"*Mikrotriplikacja 11q24.1 jest niezwykle rzadką częściową autosomalną tetrasomią, która postała wskutek częściowego potrojenia/triplikacji długiego ramienia chromosomu 11. Charakteryzuje się niepełnosprawnością intelektualną (z ciężkim upośledzeniem mowy), niskim wzrostem z małymi kończynami, stożkiem rogówki i odrębnymi rysami twarzy (okrągła twarz, skośnie ku górze ustawione szpary powiekowe, łagodnie zrośnięte brwi, duży nos z grubymi skrzydełkami i trójkątnym czubkiem, duże usta z szerokimi wargami, krótka i wygładzone rynienka podnosowa, duży wystający podbródek, uszy z przylegającymi/przyrośniętymi płatkami usznymi – płatki taśmowate). Ponadto u pacjentów występuje nadwaga i hipercholesterolemia."},"cs":{"name":"Mikrotriplikace 11q24.1","synonyms":["Tetrazomie 11q24.1"]},"uk":{"name":"Мікротріплікація 11q24.1","synonyms":["Тетрасомія 11q24.1"],"definition":"Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia."},"zh":{"name":"微三倍体11q24.1","synonyms":["11q24.1四体"],"definition":"11q24.1微三倍复制是一种极为罕见的部分常染色体四体，由11号染色体长臂部分三倍体引起，其特征是智力障碍（伴重度语言障碍）、身材矮小、四肢小、圆锥角膜和明显的面部特征（圆脸、眼裂向上倾斜，轻度关节炎，大鼻子，厚鼻翼，三角鼻尖，大嘴宽唇，人中短而扁平，下巴大而突出，附耳垂）。此外，患儿有超重和高胆固醇血症。"},"tr":{"name":"Mikrotriplikasyon 11q24.1","synonyms":["Tetrazomi 11q24.1"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017335","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749373","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":262923,"name":"Partial duplication of the long arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21617255[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21617255[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-23","source":"21617255[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009907","label":"Attached earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011822","label":"Broad chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006316","label":"Irregularly spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006951","label":"Retrocerebellar cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}