{"orpha":1711,"name":"Mosaic trisomy 17 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 17","Trisomy 17 mosaicism"],"definition":"Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1711/","orphanet_url":"https://www.orpha.net/en/disease/detail/1711","names":{"fr":{"name":"Syndrome de trisomie 17 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique, de présentation clinique très variable. Il se caractérise principalement par un retard de croissance, un déficit intellectuel, une asymétrie corporelle avec une différence de longueur des jambes, une scoliose et des anomalies cardiaques congénitales (comme une communication interventriculaire). Les données à l'échographie prénatale incluent un retard de croissance intra-utérine, un épaississement de la clarté nucale, des anomalies cérébrales (comme une hypoplasie cérébelleuse), une effusion pleurale et une artère ombilicale unique. Des patients sans malformation associée ont aussi été rapportés."},"de":{"name":"Mosaik-Trisomie 17","synonyms":["Mosaik-Trisomie Chromosom 17"],"definition":"Die Mosaik-Trisomie 17 ist eine seltene Chromosomenanomalie mit einer sehr variablen klinischen Präsentation, die meist durch Wachstumsverzögerung, Intelligenzminderung, Körperasymmetrie mit Beinlängendifferenzierung, Skoliose und angeborene Herzanomalien (z.B. Ventrikelseptumdefekt) gekennzeichnet ist. Zu den pränatalen Ultraschallbefunden gehören intrauterine Wachstumsretardierung, Nackenverdickung, Hirnanomalien (z. B. Kleinhirnhypoplasie), Pleuraerguss und singuläre Nabelschnurarterie. Es wurde auch von Patienten ohne assoziierte Fehlbildungen berichtet."},"es":{"name":"Síndrome de trisomía 17 en mosaico","synonyms":["Trisomía del cromosoma 17 en mosaico"],"definition":"La trisomía 17 en mosaico es una anomalía cromosómica poco frecuente, con una presentación clínica altamente variable, que se caracteriza principalmente por retraso del crecimiento, discapacidad intelectual, asimetría corporal con diferente longitud de las piernas, escoliosis y anomalías cardíacas congénitas (por ejemplo, defecto septal ventricular). Los hallazgos de la ecografía prenatal incluyen retraso del crecimiento intrauterino, anomalías cerebrales asociadas a engrosamiento nucal (por ejemplo, hipoplasia cerebelosa), derrame pleural y arteria umbilical única. También se han notificado pacientes sin malformaciones asociadas."},"it":{"name":"Sindrome trisomia 17 in mosaico","synonyms":["Trisomia del cromosoma 17 in mosaico","Trisomia 17 in mosaico"],"definition":"La trisomia 17 in mosaico è un'anomalia cromosomica rara, associata ad un quadro clinico molto variabile, caratterizzato prevalentemente da ritardo della crescita, disabilità intellettiva, asimmetria del corpo e diversa lunghezza delle gambe, scoliosi e cardiopatie congenite (difetto del setto interventricolare). L'ecografia prenatale può evidenziare ritardo della crescita, ispessimento della plica nucale e anomalie cerebrali (ipoplasia cerebellare), versamento pleurico e arteria ombelicale unica. Alcuni pazienti non presentano difetti."},"nl":{"name":"Mozaïektrisomie 17-syndroom","synonyms":["Mozaïektrisomie chromosoom 17","Trisomie 17 mozaïcisme"],"definition":"Mozaïektrisomie 17 is een zeldzaam syndroom met een chromosomale anomalie, met een hoogst variabel klinisch beeld dat voornamelijk gekarakteriseerd wordt door groeiachterstand, intellectuele achterstand, lichaamsasymmetrie met beenlengteverschil, scoliose, en congenitale hartanomalieën (e.g. ventrikelseptumdefect). Bevindingen van prenatale echografie zijn onder meer intra-uteriene groeiretardatie, verdikking van de nekplooi, hersenanomalieën (e.g. cerebellaire hypoplasie), pleurale effusie en één enkele navelarterie. Er werden ook patiënten zonder geassocieerde malformaties gerapporteerd."},"pt":{"name":"Trissomia 17 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 17","synonyms":["Mosaic trisomy chromosome 17","Trisomy 17 mosaicism"]},"cs":{"name":"Mozaiková forma trizomie 17","synonyms":["Mosaic trisomy chromosome 17","Trisomy 17 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 17","synonyms":["Мозаїчна трисомія хромосоми 17","Трисомія 17 мозаїчність"],"definition":"Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported."},"zh":{"name":"17号染色体嵌合三倍体","synonyms":["嵌合17号染色体三体"]},"tr":{"name":"Mozaik trizomi 17","synonyms":["Trizomi 17 mozaisizmi","Mozaik trizomi kromozomu 17"]}},"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":"1686459455"},{"source":"MONDO","code":"0015730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1096168","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5317","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":31.0,"area":"Worldwide","status":"Validated","source":"27751421[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27751421[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-02","source":"25935373[PMID]_27751421[PMID]_27099743[PMID]_21998853[PMID]","terms":[{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","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:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}