{"orpha":96060,"name":"Mosaic trisomy 5 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 5","Trisomy 5 mosaicism"],"definition":"Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96060/","orphanet_url":"https://www.orpha.net/en/disease/detail/96060","names":{"fr":{"name":"Syndrome de trisomie 5 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique avec un phénotype variable, allant de patients asymptomatiques à des ceux présentant un retard de croissance intra-utérin, des anomalies cardiaques congénitales (surtout une communication interventriculaire), une dysmorphie faciale (par ex. un hypertélorisme, un pont nasal proéminent) et d'autres anomalies congénitales (incluant une éventration du diaphragme, une agénésie du corps calleux, un crâne en trèfle, une clinodactylie, un anus situé au niveau antérieur). Le développement psychomoteur peut être normal malgré l'association de paramètres de faible croissance."},"de":{"name":"Mosaik-Trisomie 5","synonyms":["Mosaik-Trisomie Chromosom 5"]},"es":{"name":"Síndrome de trisomía 5 en mosaico","synonyms":["Trisomía del cromosoma 5 en mosaico"],"definition":"La trisomía 5 en mosaico es una anomalía cromosómica poco frecuente que presenta un fenotipo muy variable, que puede ir desde individuos clínicamente normales, a otros que presentan retraso del crecimiento intrauterino, anomalías cardíacas congénitas (principalmente defecto septal ventricular), características dismórficas múltiples (por ejemplo, hipertelorismo, puente nasal prominente) y otras anomalías congénitas (incluye eventración diafragmática, agenesia del cuerpo calloso, cráneo en forma de trébol, clinodactilia, ano anterior). El desarrollo psicomotor puede ser normal a pesar de estar asociado a parámetros indicativos de crecimiento lento."},"it":{"name":"Sindrome trisomia 5 in mosaico","synonyms":["Trisomia 5 in mosaico","Trisomia del cromosoma 5 in mosaico"],"definition":"La trisomia 5 in mosaico è un'anomalia cromosomica rara, caratterizzata da un fenotipo molto variabile, che comprende quadri clinici di normalità, fino al ritardo della crescita prenatale, alle cardiopatie congenite (in particolare difetto del setto ventricolare), ai dismorfismi multipli (ipertelorismo, sella nasale prominente) e ad altri difetti congeniti (eventrazione del diaframma, agenesia del corpo calloso, cranio a trifoglio, clinodattilia, ano anteriorizzato). Lo sviluppo psicomotorio può essere normale, anche in presenza di parametri di crescita ridotti."},"nl":{"name":"Mozaïektrisomie 5-syndroom","synonyms":["Mozaïektrisomie chromosoom 5","Trisomie 5 mozaïcisme"],"definition":"Mozaïektrisomie 5 is een zeldzaam syndroom met een chromosomale anomalie en met een variabel fenotype gaande van klinisch normaal tot patiënten met intra-uteriene groeiretardatie, congenitale hartanomalieën (voornamelijk ventrikelseptumdefect), meerdere dysmorfe kenmerken (e.g. hypertelorisme, uitgesproken neusbrug) en andere congenitale anomalieën (incl. eventratie van het diafragma, agenesie van het corpus callosum, klaverbladschedel, clinodactylie, anterieur gesitueerde anus). Psychomotorische ontwikkeling kan normaal zijn ondanks de lage groeiparameters die zijn geassocieerd."},"pt":{"name":"Trissomia 5 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 5","synonyms":["Mosaic trisomy chromosome 5","Trisomy 5 mosaicism"]},"cs":{"name":"Mozaiková trizomie 5","synonyms":["Mosaic trisomy chromosome 5","Trisomy 5 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 5","synonyms":["Мозаїчна трисомія хромосоми 5","Трисомія 5 мозаїцизм"],"definition":"Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated."},"zh":{"name":"5号染色体嵌合体","synonyms":["嵌合型4号染色体三体"],"definition":"嵌合型5号染色体三体是一种罕见的染色体异常综合征，其表型多变，轻者临床表型完全正常，重者可出现宫内生长迟缓、先天性心脏异常（主要是室间隔缺损）、多种畸形特征（如眼间距过宽、高鼻梁）和其他先天性异常（包括膈膨升、胼胝体发育不全、分叶状颅骨、指/趾侧弯畸形、前位肛门）。患儿生长参数（身高、体重等）偏低，但精神运动发育可能是正常的。"},"tr":{"name":"Mozaik trizomi 5","synonyms":["Trizomi 5 mosaisizm","5. kromozomun mozaik trizomisi"]}},"xrefs":[{"source":"ICD-10","code":"Q92.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD40.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019866","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931603","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98131,"name":"Total autosomal trisomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"28653809[PMID]_33218416[PMID]_33411590[PMID]_32820524[PMID]_29141250[PMID]_30998911[PMID]_19664845[PMID]_1386985[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28653809[PMID]_33218416[PMID]_33411590[PMID]_32820524[PMID]_29141250[PMID]_30998911[PMID]_19664845[PMID]_1386985[PMID]_ORPHANET"}],"phenotypes":null}