{"orpha":1717,"name":"Distal duplication 19q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 19q","Telomeric duplication 19q","Trisomy 19qter"],"definition":"Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1717/","orphanet_url":"https://www.orpha.net/en/disease/detail/1717","names":{"fr":{"name":"Syndrome de duplication distale 19q","synonyms":["Duplication 19qter","Duplication télomérique 19q","Trisomie 19qter","Trisomie distale 19q","Trisomie télomérique 19q"],"definition":"Syndrome d'anomalie chromosomique rare caractérisé par un faible poids à la naissance, un retard de développement, une déficience intellectuelle, une petite taille, une dysmorphie craniofaciale (y compris microcéphalie, hypoplasie de l'étage moyen de la face, hypertélorisme, pont nasal plat, anomalies des oreilles, philtrum court, commissures tombantes, micrognathie) et un cou court avec des plis cutanés redondants. D'autres caractéristiques peuvent inclure l'hypotonie, des anomalies squelettiques (clino/camptodactylie), des crises d'épilepsie et des malformations cardiaques, urogénitales et gastro-intestinales congénitales."},"de":{"name":"Distale Duplikation 19q","synonyms":["Distale Trisomie 19q","Telomere Duplikation 19q","Trisomie 19qter"],"definition":"Die distale Trisomie 19q ist ein seltenes Chromosomenanomalie-Syndrom, das durch niedriges Geburtsgewicht, Entwicklungsverzögerung, Intelligenzminderung, Kleinwuchs, kraniofaziale Dysmorphien (inkl. Mikrozephalie, Mittelgesichtshypoplasie, Hypertelorismus, flacher Nasenrücken, Ohranomalien, kurzes Philtrum, nach unten gebogene Mundwinkel, Mikrognathie) und einen kurzen Hals mit überflüssigen Hautfalten gekennzeichnet ist. Zusätzliche Merkmale können Hypotonie, Skelettanomalien (z. B. Klino-/Kamptodaktylie), Krampfanfälle und angeborene kardiale, urogenitale und gastrointestinale Fehlbildungen sein."},"es":{"name":"Síndrome de duplicación terminal 19q","synonyms":["Duplicación terminal 19q","Trisomía 19qter","Trisomía terminal 19q"],"definition":"Es un síndrome por anomalía cromosómica poco frecuente caracterizado por bajo peso al nacer, retraso en el desarrollo, discapacidad intelectual, talla baja, dismorfia craneofacial (incluyendo microcefalia, hipoplasia mediofacial, hipertelorismo, puente nasal plano, anomalías auriculares, filtrum corto, comisuras de la boca inclinadas hacia abajo, micrognatia) y cuello corto con pliegues cutáneos redundantes. Otros hallazgos adicionales pueden incluir hipotonía, anomalías esqueléticas (p. ej., clino / camptodactilia), convulsiones y malformaciones congénitas cardíacas, urogenitales y gastrointestinales."},"it":{"name":"Sindrome duplicazione 19q distale","synonyms":["Trisomia distale 19q","Duplicazione 19q telomerica","Trisomia 19qter"],"definition":"La trisomia 19q distale è un'anomalia cromosomica rara, caratterizzata da scarso peso alla nascita, ritardo dello sviluppo, disabilità intellettiva, bassa statura, dismorfismi craniofacciali (microcefalia, ipoplasia medio-facciale, ipertelorismo, sella nasale piatta, anomalie delle orecchie, filtro corto, angoli della bocca rivolti verso il basso, micrognazia) e collo corto con pliche cutanee ridondanti. Altri segni clinici sono l'ipotonia, le anomalie scheletriche (clino/camptodattilia), le crisi epilettiche, le cardiopatie e le anomalie urogenitali e gastrointestinali congenite."},"nl":{"name":"Distale duplicatie 19q-syndroom","synonyms":["Distale trisomie 19q","Telomerische duplicatie 19q","Trisomie 19qter"],"definition":"Distale trisomie 19q is een zeldzaam syndroom met een chromosomale anomalie, en wordt gekarakteriseerd door een laag geboortegewicht, ontwikkelingsachterstand, intellectuele achterstand, kleine gestalte, craniofaciale dysmorfie (inclusief microcefalie, hypoplasie van het middengezicht, hypertelorisme, platte neusbrug, ooranomalieën, kort filtrum, naar beneden gekeerde mondhoeken, micrognathie) en een korte hals/nek met overtollige huidplooien. Mogelijke bijkomende kenmerken zijn onder meer hypotonie, skeletanomalieën (e.g. clino-/camptodactylie), insulten en congenitale cardiale, urogenitale en gastro-intestinale malformaties."},"pt":{"name":"Duplicação distal 19q","synonyms":["Duplicação telomérica 19q","Trissomia 19qter","Trissomia distal 19q"]},"pl":{"name":"Zespół duplikacji dystalnej 19q","synonyms":["Duplikacja dystalna 19q","Duplikacja telomerowa 19q","Trisomia 19qter"]},"cs":{"name":"Distální trizomie 19q","synonyms":["Distální duplikace 19q","Telomerická duplikace 19q","Trizomie 19qter"]},"uk":{"name":"Дистальна дуплікація 19q","synonyms":["Дистальна трисомія 19q","Теломерна дуплікація 19q","Трисомія 19qter"],"definition":"Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations."},"zh":{"name":"19号染色体长臂远端三体","synonyms":["19号染色体长臂末端着丝粒重复"]},"tr":{"name":"Distal trizomi 19q","synonyms":["Trizomi 19qter","Distal duplikasyon 19q","Telomerik duplikasyon 19q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.J0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1578219142"},{"source":"MONDO","code":"0015744","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707664","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262986,"name":"Partial duplication of the long arm of chromosome 19 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"25606462[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"25606462[PMID]_ORPHANET"}],"phenotypes":null}