{"orpha":96059,"name":"Mosaic trisomy 4 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 4","Trisomy 4 mosaicism"],"definition":"Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96059/","orphanet_url":"https://www.orpha.net/en/disease/detail/96059","names":{"fr":{"name":"Syndrome de trisomie 4 en mosaïque","definition":"Une anomalie autosomique rare causée par la présence d'une copie supplémentaire du chromosome 4 dans une fraction de cellules. Le phénotype est variable et se caractérise par un retard de croissance intra-utérin, un faible poids/taille/diamètre occipito-frontal à la naissance, un léger déficit intellectuel, des anomalies cardiaques congénitales, une cardiomyopathie hypertrophique, une dysmorphie faciale (asymétrie du visage, sourcils anormaux, oreilles dysplasiques, implantées basses et ourlées vers l'arrière, micro-/rétrognathie), des anomalies caractéristiques des pouces (aplasie, hypoplasie) et des anomalies cutanées (hypo-/hyperpigmentation). Un retard de la puberté peut être associé."},"de":{"name":"Mosaik-Trisomie 4","synonyms":["Mosaik-Trisomie Chromosom 4"],"definition":"Die Mosaik-Trisomie 4 ist eine seltene autosomale Chromosomenanomalie, bei der in einem Teil der Körperzellen einer zusätzlichen Kopie von Chromosom 4 vorliegt. Sie geht einher mit einem variablen Phänotyp und ist gekennzeichnet durch intrauterine Wachstumsretardierung, niedriges Geburtsgewicht, reduzierte/r Körperlänge/OFC, leichtes intellektuelles Defizit, kongenitale Herzfehler, hypertrophe Kardiomyopathie, dysmorphe Merkmale (Asymmetrie des Gesichts, Augenbrauenanomalien, tief angesetzte, nach hinten gedrehte, dysplastische Ohren, Mikro-/Retrognathie), charakteristische Daumenanomalien (Aplasie, Hypoplasie) und Hautanomalien (Hypo-/Hyperpigmentierung). Eine verzögerte Pubertät kann assoziiert sein."},"es":{"name":"Síndrome de trisomía 4 en mosaico","synonyms":["Trisomía del cromosoma 4 en mosaico"],"definition":"La trisomía 4 en mosaico es una anomalía autosómica poco frecuente, debida a la presencia de una copia adicional del cromosoma 4 en una fracción de las células, con un fenotipo variable caracterizado por retraso del crecimiento intrauterino, bajo peso/talla/perímetro craneal al nacer, déficit intelectual leve, defectos cardíacos congénitos, cardiomiopatía hipertrófica, características dismórficas (asimetría facial, anomalías de las cejas, orejas displásicas, de baja implantación y rotadas hacia atrás, micro/retrognatia), anomalías características del pulgar (aplasia, hipoplasia) y anomalías cutáneas (hipo/hiperpigmentación). Puede estar asociada con pubertad tardía."},"it":{"name":"Sindrome trisomia 4 in mosaico","synonyms":["Trisomia del cromosoma 4 in mosaico","Trisomia 4 in mosaico"],"definition":"La trisomia 4 in mosaico è un'anomalia autosomica rara, causata dalla presenza di una copia supplementare del cromosoma 4 in una percentuale delle cellule. Il quadro clinico è variabile ed è caratterizzato da ritardo della crescita prenatale, riduzione del peso/lunghezza/circonferenza cranica alla nascita, lieve deficit intellettivo, cardiopatie congenite, cardiomiopatia ipertrofica, dismorfismi (asimmetria del volto, anomalie delle sopracciglia, orecchie displastiche, a basso impianto, ruotate posteriormente, micro-/retrognazia) e anomalie della cute (ipo/iperpigmentazione). La pubertà può essere ritardata."},"nl":{"name":"Mozaïektrisomie 4-syndroom","synonyms":["Mozaïektrisomie chromosoom 4","Trisomie 4 mozaïcisme"],"definition":"Mozaïektrisomie 4 is een zeldzame autosomale anomalie als gevolg van de aanwezigheid van een extra kopie van chromosoom 4 in een fractie van alle cellen, en vertoont een variabel fenotype dat gekarakteriseerd wordt door intra-uteriene groeiretardatie, laag geboortegewicht/lengte/occipito-frontale hoofdomtrek, milde intellectuele achterstand, congenitale hartdefecten, hypertrofische cardiomyopathie, dysmorfe kenmerken (asymmetrie van het gelaat, anomalieën aan de wenkbrauwen, laagstaande, naar achteren gedraaide, dysplastische oren, micro-/retrognathie), typische afwijkingen aan de duim (aplasie, hypoplasie) en huidafwijkingen (hypo-/hyperpigmentatie). Uitgestelde puberteit kan geassocieerd zijn."},"pt":{"name":"Trissomia 4 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 4","synonyms":["Mosaic trisomy chromosome 4","Trisomy 4 mosaicism"]},"cs":{"name":"Mozaiková trizomie 4","synonyms":["Mosaic trisomy chromosome 4","Trisomy 4 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 4","synonyms":["Мозаїчна трисомія хромосоми 4","Трисомія 4 мозаїцизм"],"definition":"Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated."},"zh":{"name":"4号染色体嵌合体","synonyms":["嵌合型4号染色体三体"],"definition":"嵌合型4号染色体三体是一种罕见的常染色体异常，在患者的所有细胞中，有一小部分细胞中4号染色体有一个额外的拷贝，该病表型多变，主要表现为宫内发育迟缓、出生体重/体长/OFC低、轻度智力障碍、先天性心脏缺陷、肥厚性心肌病、畸形面容（面部不对称、眉毛异常、低位耳、后旋耳、耳朵发育异常、小颌/下颌后缩畸形）、拇指畸形（发育不全、不发育）和皮肤异常（色素减退/色素沉着）。此外，还可能出现青春期延迟。"},"tr":{"name":"Mozaik trizomi 4","synonyms":["Trizomi 4 mosaisizm","4. 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":"0019865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4272018","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":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26789019[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"26789019[PMID]"}],"phenotypes":null}