{"orpha":96109,"name":"Distal duplication 22q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 22q","Telomeric duplication 22q","Trisomy 22qter"],"definition":"Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96109/","orphanet_url":"https://www.orpha.net/en/disease/detail/96109","names":{"fr":{"name":"Syndrome de duplication distale 22q","synonyms":["Duplication 22qter","Duplication télomérique 22q","Trisomie 22qter","Trisomie distale 22q","Trisomie télomérique 22q"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras long du chromosome 22. Le phénotype est variable, et se caractérise principalement par des degrés divers de déficit intellectuel et de retard de développement, un retard de croissance pré- et post-natale, une hypotonie et une dysmorphie craniofaciale (incluant une microcéphalie, un hypertélorisme, des fentes palpébrales étroites, obliques en haut et en dehors, des plis épicanthiques, des oreilles dysplasiques implantées basses, un pont nasal large et déprimé, une fente labiale et/ou palatine, un long philtrum, une rétro-/micrognathie). Des anomalies congénitales cardiaques, cérébrales, squelettiques, rénales et génitales ont aussi été rapportées."},"de":{"name":"Distale Duplikation 22q","synonyms":["Distale Trisomie 22q","Duplikation 22q, distale","Telomere Duplikation 22q","Trisomie 22qter"],"definition":"Die distale Trisomie 22q ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des langen Arms von Chromosom 22 resultiert und einen variablen Phänotyp aufweist. Das Syndrom ist hauptsächlich gekennzeichnet durch unterschiedliche Grade von Intelligenzminderung und Entwicklungsverzögerung, prä- und postnatale Wachstumsstörungen, Hypotonie und kraniofaziale Dysmorphien (inkl. Mikrozephalie, Hypertelorismus, enge und aufsteigende Lidachsen, Epikanthusfalten, tief angesetzte dysplastische Ohren, breiter und abgesenkter Nasenrücken, Lippen- und/oder Gaumenspalte, langes Philtrum, Retro-/Mikrognathie). Angeborene Herzfehler, sowie zerebrale, skelettale, renale und genitale Anomalien wurden ebenfalls berichtet."},"es":{"name":"Síndrome de duplicación terminal 22q","synonyms":["Trisomía 22qter","Trisomía terminal 22q"],"definition":"La trisomía terminal 22q es una anomalía cromosómica poco frecuente, que resulta de la duplicación parcial del brazo largo del cromosoma 22, con un fenotipo variable caracterizado principalmente por diversos grados de discapacidad intelectual y retraso del desarrollo, falta de crecimiento pre- y postnatal, hipotonía y dismorfia craneofacial (incluyendo microcefalia, hipertelorismo, fisuras palpebrales estrechas e inclinadas hacia arriba, pliegues epicánticos, orejas displásicas de baja implantación, puente nasal ancho y deprimido, labio leporino y/o paladar hendido, surco nasolabial largo, retro/micrognatia). También se han notificado defectos cardíacos congénitos, así como anomalías cerebrales, esqueléticas, renales y genitales."},"it":{"name":"Sindrome duplicazione 22q distale","synonyms":["Trisomia 22q distale","Duplicazione 22q telomerica","Trisomia 22qter"],"definition":"La trisomia 22q distale è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 22; il quadro clinico è variabile ed è caratterizzato prevalentemente da disabilità intellettiva e ritardo dello sviluppo di gravità variabile, ritardo della crescita pre- e post-natale, ipotonia e dismorfismi craniofacciali (microcefalia, ipertelorismo, rime palpebrali oblique verso l'alto e strette, epicanto, orecchie displastiche a basso impianto, sella nasale ampia e infossata, labioschisi e/o palatoschisi, filtro lungo, retro/micrognazia). Sono stati descritti pazienti con cardiopatie, anomalie cerebrali, scheletriche, renali e dei genitali."},"nl":{"name":"Distale duplicatie 22q-syndroom","synonyms":["Distale trisomie 22q","Telomerische duplicatie 22q","Trisomie 22qter"],"definition":"Distale trisomie 22q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 22, en vertoont een variabel fenotype dat voornamelijk gekarakteriseerd wordt door verschillende gradaties van intellectuele achterstand en ontwikkelingsachterstand, pre- en postnatale groeideficiëntie, hypotonie, en craniofaciale dysmorfie (incl. microcefalie, hypertelorisme, smalle en opwaartse ooglidspleten, epicanthusplooien, laagstaande dysplastische oren, brede en ingedrukte neusbrug, gespleten lip en/of verhemelte, lang filtrum, en retro-/micrognathie). Congenitale hartdefecten, alsook cerebrale, skeletale, renale en genitale anomalieën, werden ook reeds gerapporteerd."},"pt":{"name":"Duplicação distal 22q","synonyms":["Duplicação telomérica 22q","Trissomia 22qter","Trissomia distal 22q"]},"pl":{"name":"Zespół duplikacji dystalnej 22q","synonyms":["Duplikacja dystalna 22q","Duplikacja telomerowa 22q","Trisomia 22qter"]},"cs":{"name":"Distální trizomie 22q","synonyms":["Distální duplikace 22q","Telomerická duplikace 22q","Trizomie 22qter"]},"uk":{"name":"Дистальна дуплікація 22q","synonyms":["Дистальна трисомія 22q","Теломерна дуплікація 22q","Трисомія 22qter"],"definition":"Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported."},"zh":{"name":"22号染色体长臂远端三体","synonyms":["22号染色体长臂端粒重复"],"definition":"22号染色体长臂远端三体是一种罕见的染色体异常综合征，是由22号染色体长臂部分重复引起的，其主要表现为不同程度的智力障碍和发育迟缓、产前和产后生长不良、肌张力减退，颅面畸形（包括小头畸形、眼间距宽、眼睑裂狭窄且上斜、内眦赘皮、低位发育不良的耳朵、鼻梁宽而凹陷、唇腭裂、长人中、小颌畸形）。先天性心脏病，以及大脑、骨骼、肾脏和生殖器异常也有报道。"},"tr":{"name":"Distal trizomi 22q","synonyms":["Trizomi 22qter","Distal duplikasyon 22q","Telomerik duplikasyon 22q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.M","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019889","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706936","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263004,"name":"Partial duplication of the long arm of chromosome 22 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}