{"orpha":1723,"name":"Mosaic trisomy 2 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 2","Trisomy 2 mosaicism"],"definition":"Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1723/","orphanet_url":"https://www.orpha.net/en/disease/detail/1723","names":{"fr":{"name":"Syndrome de trisomie 2 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique possédant un phénotype très variable. Il se caractérise principalement par un retard de croissance intra-utérin, un retard de croissance et moteur post-natal, une dysmorphie craniofaciale (comme une microcéphalie, un hypertélorisme, une micro/anophtalmie, une hypoplasie de l'étage moyen du visage, une fente labiale/palatine), des anomalies congénitales cardiaques et du tube neural, ainsi que diverses anomalies squelettiques (comme une scoliose, une hypoplasie radio-ulnaire, une polydactylie préaxiale) et gastro-intestinales (comme une malrotation intestinale, la maladie de Hirschprung). Des malformations du système nerveux central (incluant une ventriculomégalie, un corps calleux fin, une spina bifida) ont aussi été rapportées."},"de":{"name":"Mosaik-Trisomie 2","synonyms":["Mosaik-Trisomie Chromosom 2"],"definition":"Die Mosaik-Trisomie 2 ist eine seltene Chromosomenanomalie mit einem sehr variablen Phänotyp. Hauptsächliche Merkmale sind intrauterine Wachstumsrestriktion, Wachstums- und motorische Verzögerung, kraniofazialen Dysmorphie (z.B. Mikrozephalie, Hypertelorismus, Mikro-/Anophthalmus, Mittelgesichtshypoplasie, Lippen-Kiefer-Gaumenspalte), kongenitale Herz- und Neuralrohrdefekte sowie verschiedene Skelettanomalien (z. B. Skoliose, Radioulnarhypoplasie, präaxiale Polydaktylie) und gastrointestinale Anomalien (z. B. Darmmalrotation, Hirschsprung-Krankheit). Fehlbildungen des zentralen Nervensystems (einschließlich Ventrikulomegalie, dünnes Corpus callosum, Spina bifida) wurden ebenfalls berichtet."},"es":{"name":"Síndrome de trisomía 2 en mosaico","synonyms":["Trisomía del cromosoma 2 en mosaico"],"definition":"La trisomía 2 en mosaico es un síndrome por anomalía cromosómica poco frecuente, con un fenotipo muy variable, caracterizado principalmente por restricción del crecimiento intrauterino, retraso motor y del crecimiento, dismorfia craneofacial (p. ej., microcefalia, hipertelorismo, micro/anoftalmia, hipoplasia del tercio medio facial, labio leporino/paladar hendido), anomalías cardíacas congénitas y del tubo neural, así como diversas anomalías esqueléticas (p. ej., escoliosis, hipoplasia radiocubital, polidactilia preaxial) y anomalías gastrointestinales (p. ej., malrotación intestinal, enfermedad de Hirschsprung). También se han descrito malformaciones del sistema nervioso central (que incluyen ventriculomegalia, cuerpo calloso delgado, espina bífida)."},"it":{"name":"Trisomia 2 in mosaico","synonyms":["Trisomia 2 in mosaico","Sindrome trisomia 2 in mosaico"],"definition":"La trisomia 2 in mosaico è un'anomalia cromosomica rara; il quadro clinico è molto variabile, caratterizzato prevalentemente da ritardo della crescita prenatale e post-natale e ritardo dello sviluppo motorio, dismorfismi craniofacciali (microcefalia, ipertelorismo, micro/anoftalmia, ipoplasia medio-facciale, labioschisi/palatoschisi), cardiopatie, difetti congeniti del tubo neurale, anomalie scheletriche (scoliosi, ipoplasia radio-ulnare, polidattilia preassiale) e gastrointestinali (malrotazione dell'intestino, malattia di Hirschsprung). Sono stati descritti pazienti con malformazioni del sistema nervoso centrale (ventricolomegalia, assottigliamento del corpo calloso, spina bifida)."},"nl":{"name":"Mozaïektrisomie 2-syndroom","synonyms":["Mozaïektrisomie chromosoom 2","Trisomie 2 mozaïcisme"],"definition":"Mozaïektrisomie 2 is een zeldzaam syndroom met een chromosomale anomalie, en heeft een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door intra-uteriene groeirestrictie, groei- en motorische achterstand, craniofaciale dysmorfie (e.g. microcefalie, hypertelorisme, micro-/anoftalmie, hypoplasie van het middengezicht, gespleten lip/verhemelte), congenitale hart- en neuralebuisdefecten, alsook verscheidene anomalieën van het skelet (e.g. scoliose, radio-ulnaire hypoplasie, preaxiale polydactylie) en het gastro-intestinale systeem (e.g. intestinale malrotatie, ziekte van Hirschsprung). Malformaties van het centrale zenuwstelsel (waaronder ventriculomegalie, dun corpus callosum, spina bifida (open rug)) werden ook reeds gerapporteerd."},"pt":{"name":"Trissomia 2 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 2","synonyms":["Mosaic trisomy chromosome 2","Trisomy 2 mosaicism"]},"cs":{"name":"Mozaika trizomie 2","synonyms":["Mosaic trisomy chromosome 2","Trisomy 2 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 2","synonyms":["Мозаїчна трисомія хромосоми 2","Трисомія 2 мозаїцизм"],"definition":"Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported."},"zh":{"name":"2号染色体嵌合三体","synonyms":["2号染色体嵌合三体"]},"tr":{"name":"Mozaik trizomi 2","synonyms":["Trizomi 2 mozaisizmi","Mozaik trizomi kromozomu 2"]}},"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,"icd11_uri":"null"},{"source":"MONDO","code":"0015763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707010","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5331","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":22.0,"area":"Worldwide","status":"Validated","source":"23276565[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23276565[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-23","source":"32855656[PMID]_23276565[PMID]_21416586[PMID]","terms":[{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045005","label":"Neural tube defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033725","label":"Thin corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}