{"orpha":100071,"name":"Mosaic trisomy 3 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 3","Trisomy 3 mosaicism"],"definition":"Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100071/","orphanet_url":"https://www.orpha.net/en/disease/detail/100071","names":{"fr":{"name":"Syndrome de duplication en mosaïque du chromosome 3","definition":"Un syndrome rare d'anomalie chromosomique. Le phénotype est très variable, allant d'un phénotype léger se manifestant par une douleur et une laxité articulaires, une légère dysmorphie faciale (comme un visage long, des yeux proéminents, des oreilles dysplasiques, les coins de la bouche tournés vers le bas, une micrognathie), sans retard de développement, à des phénotypes plus sévères incluant une petite taille, un déficit intellectuel, un retard sévère du développement, des signes dysmorphiques craniofaciaux additionnels (comme une brachydactylie, un front haut, l'étage moyen du visage plat, un cou court) et une atteinte auditive, ainsi que des anomalies squelettiques (comme un pectus excavatum, une scoliose), oculaires (comme un colobome) et cardiaques."},"de":{"name":"Mosaik-Trisomie 3","synonyms":["Mosaik-Trisomie Chromosom 3"],"definition":"Die Mosaik-Trisomie 3 ist eine seltene Chromosomenanomalie mit einer hohen phänotypischen Variabilität. Er werden milde Phänotypen mit Gelenkschmerzen und Laxität, leichten Gesichtsdysmorphien (z.B. langes Gesicht, hervortretende Augen, dysplastische Ohren, nach unten gezogene Mundwinkel, Mikrognathie) und normalem Entwicklungsverlauf bis hin zu schwereren Phänotypen mit Kleinwuchs, Intelligenzminderung, schweren Entwicklungsverzögerungen, zusätzlichen kraniofazialen Dysmorphien (z.B. Brachyzephalie, hohe Stirn, flaches Mittelgesicht, kurzer Hals) und Hörstörungen sowie Skelett- (z. B. Pectus excavatum, Skoliose), Augen- (z. B. Kolobom) und Herzanomalien beschrieben."},"es":{"name":"Síndrome de trisomía 3 en mosaico","synonyms":["Trisomía del cromosoma 3 en mosaico"],"definition":"La trisomía 3 en mosaico es una anomalía cromosómica poco frecuente, con una gran variabilidad fenotípica que va desde un fenotipo leve que presenta dolor y laxitud articulares, dismorfia facial leve (p. ej., facies alargada, ojos prominentes, orejas displásicas, comisuras de la boca inclinadas hacia abajo, micrognatia) y sin retraso del desarrollo, hasta fenotipos más graves que incluyen talla baja, discapacidad intelectual, retraso grave del desarrollo, características dismórficas craneofaciales adicionales (p. ej, braquicefalia, frente alta, región mediofacial plana, cuello corto) y deficiencia auditiva, así como anomalías esqueléticas (por ejemplo, pectus excavatum, escoliosis), oculares (p. ej., coloboma) y cardíacas."},"it":{"name":"Sindrome trisomia 3 in mosaico","synonyms":["Trisomia del cromosoma 3 in mosaico","Trisomia 3 in mosaico"],"definition":"La trisomia 3 in mosaico è un'anomalia cromosomica rara. Il quadro clinico è molto variabile; può essere sfumato con dolore e lassità articolare e dismorfismi facciali (viso allungato, occhi prominenti, orecchie displastiche, angoli della bocca rivolti verso il basso, micrognazia) in assenza di ritardo dello sviluppo, oppure più grave con bassa statura, disabilità intellettiva, grave ritardo dello sviluppo, dismorfismi craniofacciali (brachicefalia, fronte alta, appiattimento medio-facciale, collo corto), sordità, difetti scheletrici (pectus excavatum, scoliosi) e oculari (coloboma) e cardiopatie."},"nl":{"name":"Mozaïektrisomie 3-syndroom","synonyms":["Mozaïektrisomie chromosoom 3","Trisomie 3 mozaïcisme"],"definition":"Mozaïektrisomie 3 is een zeldzaam syndroom met een chromosomale anomalie en met een grote fenotypische variabiliteit gaande van een mild fenotype met gewrichtspijn en -laxiteit, milde faciale dysmorfie (e.g. lang gezicht, opvallende ogen, dysplastische oren, afhangende mondhoeken, micrognathie) en geen ontwikkelingsachterstand tot ernstigere fenotype met onder meer een kleine gestalte, intellectuele achterstand, ernstige ontwikkelingsachterstand, bijkomende craniofaciale dysmorfe kenmerken (e.g. brachycefalie, hoog voorhoofd, plat middengezicht, korte nek/hals) en gehoorproblemen, alsook afwijkingen aan het skelet (e.g. pectus excavatum (trechterborst), scoliose), de ogen (e.g. coloboom) en het hart."},"pt":{"name":"Trissomia 3 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 3","synonyms":["Mosaic trisomy chromosome 3","Trisomy 3 mosaicism"]},"cs":{"name":"Mozaika trizomie 4","synonyms":["Mosaic trisomy chromosome 3","Trisomy 3 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 3","synonyms":["Мозаїчна трисомія хромосоми 3","Трисомія 3 мозаїцизм"],"definition":"Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities."},"zh":{"name":"嵌合型3号染色体三体","synonyms":["嵌合性三号染色体三体"],"definition":"嵌合型3三体是一种罕见的染色体异常综合征，具有很高的表型变异性，从表现为关节疼痛和松弛的轻度表型，轻微的面部畸形(如长相，突出的眼睛，发育不良的耳朵，嘴角向下，小下巴)以及没有发育迟缓，到更严重的表型，包括身材矮小，智力障碍，严重的发育迟缓，额外的颅面畸形特征(如短头畸形，高额头，面部平坦，短颈)以及听力障碍，骨骼(如漏斗胸、脊柱侧凸)、眼部(如缺损)和心脏异常。"},"tr":{"name":"Mozaik trizomi 3","synonyms":["Trizomi 3 mozaisizmi","3. 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":"index","validated":true,"icd11_uri":"1289985853"},{"source":"MONDO","code":"0015060","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707012","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5342","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":6.0,"area":"Worldwide","status":"Validated","source":"15386452[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15386452[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-11-27","source":"27004455[PMID]_27717910[PMID]_35294081[PMID]_15386452[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002041","label":"Intractable diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004808","label":"Acute myeloid leukemia","frequency":"Very rare (<4-1%)","criteria":null}]}}