{"orpha":96071,"name":"Distal duplication 3p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 3p","Telomeric duplication 3p","Trisomy 3pter"],"definition":"Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96071/","orphanet_url":"https://www.orpha.net/en/disease/detail/96071","names":{"fr":{"name":"Syndrome de duplication distale 3p","synonyms":["Duplication 3pter","Duplication télomérique 3p","Trisomie 3pter","Trisomie distale 3p","Trisomie télomérique 3p"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras court du chromosome 3. Le phénotype est très variable, et se caractérise principalement par une dysmorphie craniofaciale (incluant une brachy-/microcéphalie, un visage carré, une bosse frontale, une indentation bitemporale, un hypertélorisme/télécanthus, des oreilles implantées basses et/ou dysmorphiques, un nez court avec un pont nasal large et plat, des joues et un philtrum proéminents, les coins de la bouche orientés vers le bas, une micro-/rétrognathie, un cou court) associée à un retard psychomoteur, un déficit intellectuel modéré à sévère, des anomalies cardiaques (comme la persistance du canal artériel) et urogénitales (comme une hypoplasie rénale, un hypogénitalisme), ainsi que des convulsions et la présence de spires au niveau des doigts."},"de":{"name":"Distale Duplikation 3p","synonyms":["Distale Trisomie 3p","Duplikation 3p, distale","Telomere Duplikation 3p","Trisomie 3pter"],"definition":"Die distale Trisomie 3p ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des kurzen Arms von Chromosom 3 resultiert und einen sehr variablen Phänotyp aufweist. Hauptsächliche Merkmale sind kraniofaziale Dysmorphien (Brachy-/Mikrozephalie, quadratisches Gesicht, prominente Stirn, bitemporale Einbuchtung, Hypertelorismus/Telekanthus, tief angesetzte und/oder dysmorphe Ohren, kurze Nase mit breitem, flachem Nasenrücken, vorstehende Wangen und Philtrum, nach unten gezogene Mundwinkel, Mikrognathie/Retrognathie, kurzer Hals), verbunden mit psychomotorischer Verzögerung, mäßiger bis schwerer Intelligenzminderung, kardiale Fehlbildung (z.B. persistierender Ductus arteriosus) und urogenitale Anomalien (z.B. Nierenhypoplasie, Hypogenitalismus) sowie Krampfanfälle und charakteristische Fingerabdrücke mit Wirbeln."},"es":{"name":"Síndrome de duplicación terminal 3p","synonyms":["Trisomía 3pter","Trisomía terminal 3p"],"definition":"La trisomía terminal 3p es un síndrome de anomalías cromosómicas poco frecuente, que resulta de la duplicación parcial del brazo corto del cromosoma 3, con un fenotipo altamente variable caracterizado principalmente por dismorfia craneofacial (incl. braqui/microcefalia, facies cuadrada, frente prominente, indentación bitemporal, hipertelorismo/telecanto, orejas de baja implantación y/o dismórficas, nariz corta con puente nasal ancho y plano, mejillas y surco nasolabial prominentes, comisuras de los labios inclinadas hacia abajo, micrognatia/retrognatia, cuello corto) asociado con retraso psicomotor, discapacidad intelectual de moderada a grave, anomalías cardiacas (p. ej., conducto arterioso persistente) y urogenitales (p. ej., hipoplasia renal, hipogenitalismo), así como convulsiones y presencia de remolinos en los dedos de la mano."},"it":{"name":"Sindrome duplicazione 3p distale","synonyms":["Duplicazione 3p telomerica","Trisomia 3pter","Trisomia 3p distale"],"definition":"La trisomia 3p distale è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio corto del cromosoma 3; il quadro clinico è molto variabile ed è caratterizzato prevalentemente da dismorfismi craniofacciali (brachicefalia/microcefalia, volto squadrato, fronte bombata, solco bitemporale, ipertelorismo/telecanto, orecchie a basso impianto e/o dismorfiche, naso corto con sella nasale ampia e piatta, guance e filtro prominenti, angoli della bocca rivolti verso il basso, micrognazia/retrognazia, collo corto), ritardo dello sviluppo psicomotorio, disabilità intellettiva moderata-grave, cardiopatie (pervietà del dotto arterioso), anomalie uro-genitali (ipoplasia renale, ipogenitalismo), crisi epilettiche e presenza di spirali sulle dita."},"nl":{"name":"Distale duplicatie 3p-syndroom","synonyms":["Distale trisomie 3p","Telomerische duplicatie 3p","Trisomie 3pter"],"definition":"Distale trisomie 3p is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 3, en heeft een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door craniofaciale dysmorfie (incl. brachy-/microcefalie, vierkant gelaat, boller voorhoofd, bitemporale indentatie, hypertelorisme/telecanthus, laagstaande en/of dysmorfe oren, korte neus met brede, platte neusbrug, uitgesproken wangen en filtrum, afhangende mondhoeken, micrognathie/retrognathie, korte nek/hals), geassocieerd met psychomotorische achterstand, matige tot ernstige intellectuele achterstand, cardiale (e.g. persisterende ductus arteriosus) en urogenitale (e.g. nierhypoplasie, hypogenitalisme) afwijkingen, alsook met insulten en aanwezigheid van spiralen op vingers."},"pt":{"name":"Duplicação distal 3p","synonyms":["Duplicação telomérica 3p","Trissomia 3pter","Trissomia distal 3p"]},"pl":{"name":"Zespół duplikacji dystalnej 3p","synonyms":["Duplikacja dystalna 3p","Duplikacja telomerowa 3p","Trisomia 3pter"]},"cs":{"name":"Distální trizomie 3p","synonyms":["Distální duplikace 3p","Telomerická duplikace 3p","Trizomie 3pter"]},"uk":{"name":"Дистальна дуплікація 3p","synonyms":["Дистальна трисомія 3р","Теломерна дуплікація 3p","Трисомія 3pter"],"definition":"Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers."},"zh":{"name":"3号染色体短臂远端三体","synonyms":["3号染色体短臂端粒重复"],"definition":"3号染色体短臂远端三体是一种罕见的染色体异常综合征，由3号染色体短臂部分重复引起，其表型高度多变，主要表现为颅面畸形（包括短/小头畸形、方脸、前额突出、双颞凹槽、眼间距过宽/内眦距过宽，低位和/或畸形的耳朵、短鼻、鼻梁宽而扁平、面颊和人中突出、嘴角乡向下、小颌/下颌后缩畸形、短颈）伴精神运动发育迟缓、中重度智力障碍、心脏（如动脉导管未闭）和泌尿生殖系统（如肾发育不全），泌尿生殖器（肾脏发育不良、性腺机能减退）异常，以及癫痫发作和手指螺纹。"},"tr":{"name":"Distal trizomi 3p","synonyms":["Trizomi 3pter","Distal duplikasyon 3p","Telomerik duplikasyon 3p"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"824431208"},{"source":"MONDO","code":"0019872","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706938","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262707,"name":"Partial duplication of the short arm of chromosome 3 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}