{"orpha":1724,"name":"Mosaic trisomy 20 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mosaic trisomy chromosome 20","Trisomy 20 mosaicism"],"definition":"Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1724/","orphanet_url":"https://www.orpha.net/en/disease/detail/1724","names":{"fr":{"name":"Syndrome de trisomie 20 en mosaïque","definition":"Un syndrome rare d'anomalie chromosomique, de phénotype variable, allant d'une présentation asymptomatique (dans la majorité des cas) à une présentation légère et subtile, caractérisée principalement par des anomalies vertébrales (sténose, fusion vertébrale, cyphose), une hypotonie, une constipation tout au long de la vie, des épaules tombantes, des anomalies de la pigmentation cutanée (hypermélanose nævoïde linéaire et convolutée) et des troubles significatifs de l'apprentissage malgré l'absence de déficit intellectuel. Des phénotypes plus sévères ont aussi été rapportés, comprenant un retard psychomoteur et de la parole, une légère dysmorphie faciale, ainsi que des anomalies cardiaques (communication interventriculaire, dysplasie de la valve mitrale tricuspide) et rénales (comme des reins en fer à cheval)."},"de":{"name":"Mosaik-Trisomie 20","synonyms":["Mosaik-Trisomie Chromosom 20"],"definition":"Die Mosaik-Trisomie 20 ist eine seltene Chromosomenanomalie mit einer sehr variablen Ausprägung, die von normal (in der Mehrzahl der Fälle) bis zu einem milden, subtilen Phänotyp reicht, der hauptsächlich durch Wirbelsäulenanomalien (z.B. Stenose, Wirbelfusion und Kyphose), Hypotonie, lebenslange Obstipation, schräge Schultern, Pigmentierungsanomalien der Haut (z.B. lineare und quirlförmige nävoide Hypermelanose) und signifikante Lernstörungen trotz normaler Intelligenz gekennzeichnet ist. Patienten mit schwereren Krankheitsbildern, die psychomotorische und sprachliche Verzögerungen, leichte Gesichtsdysmorphien, kardiale (z. B. Ventrikelseptumdefekt, dysplastische trikuspidale Mitralklappe) und renale Anomalien (z. B. Hufeisennieren) aufweisen, wurden ebenfalls berichtet."},"es":{"name":"Síndrome de trisomía 20 en mosaico","synonyms":["Trisomía del cromosoma 20 en mosaico"],"definition":"La trisomía 20 en mosaico es un síndrome de anomalías cromosómicas poco frecuente con un fenotipo altamente variable que va desde normal (en la mayoría de los casos) a un fenotipo leve y sutil caracterizado principalmente por anomalías espinales (es decir, estenosis, fusión vertebral y cifosis), hipotonía, estreñimiento crónico, hombros caídos, anomalías de la pigmentación cutánea (es decir, hipermelanosis nevoide lineal y espiral) y discapacidades de aprendizaje significativas a pesar de la inteligencia normal. También se han notificado fenotipos más graves, con pacientes que presentan retraso psicomotor y del habla, dismorfia facial leve, cardiopatía (tales como, defecto septal ventricular, válvula mitral tricúspide displásica) y anomalías renales (p. ej., riñones en herradura)."},"it":{"name":"Sindrome trisomia 20 in mosaico","synonyms":["Trisomia del cromosoma 20 in mosaico","Trisomia 20 in mosaico"],"definition":"La trisomia 20 in mosaico è un'anomalia cromosomica rara; il quadro clinico può essere normale (nella maggioranza dei casi) oppure lieve e sfumato, con anomalie della colonna vertebrale (stenosi, fusione delle vertebre e cifosi), ipotonia, costipazione, spalle cadenti, anomalie della pigmentazione della cute (ipermelanosi nevoide lineare e a spirale) e marcato deficit di apprendimento, pur in presenza di un'intelligenza normale. Sono stati descritti pazienti con quadri clinici più gravi, in particolare con ritardo psicomotorio e del linguaggio, lievi dismorfismi facciali, cardiopatie (difetto del setto interventricolare, displasia della valvola mitrale tricuspide) e anomalie dei reni (reni a ferro di cavallo)."},"nl":{"name":"Mozaïektrisomie 20-syndroom","synonyms":["Mozaïektrisomie chromosoom 20","Trisomie 20 mozaïcisme"],"definition":"Mozaïektrisomie 20 is een zeldzaam syndroom met een chromosomale anomalie en een zeer variabel fenotype gaande van een normaal (in de meerderheid van de gevallen) tot een mild, subtiel fenotype dat voornamelijk gekarakteriseerd wordt door afwijkingen van de wervelkolom (i.e. stenose, vertebrale fusie, en kyfose), hypotonie, levenslange constipatie, afhangende schouder, afwijkingen van de huidpigmentatie (i.e. lineaire en gedraaide nevoïde hypermelanose) en significante leermoeilijkheden ondanks een normale intelligentie. Er werden ook ernstigere fenotypes gerapporteerd, waarbij patiënten psychomotorische en spraakachterstand, milde faciale dysmorfie, hart- (i.e. ventrikelseptumdefect, dysplastische tricuspidalis- en mitralisklep) en nieranomalieën (e.g. hoefijzernieren) vertonen."},"pt":{"name":"Trissomia 20 em mosaico"},"pl":{"name":"Zespół mozaikowej trisomii chromosomu 20","synonyms":["Mosaic trisomy chromosome 20","Trisomy 20 mosaicism"]},"cs":{"name":"Mozaika trizomie 20","synonyms":["Mosaic trisomy chromosome 20","Trisomy 20 mosaicism"]},"uk":{"name":"Мозаїчна трисомія 20","synonyms":["Мозаїчна трисомія хромосоми 20","Трисомія 20 мозаїцизм"],"definition":"Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported."},"zh":{"name":"20号染色体嵌合三体","synonyms":["20号染色体嵌合三体"]},"tr":{"name":"Mozaik trizomi 20","synonyms":["Trizomi 20 mozaisizmi","Mozaik trizomi kromozomu 20"]}},"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":"0015764","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535372","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265479","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":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23548241[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-10","source":"18203170[PMID]","terms":[{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007535","label":"Hypopigmented streaks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","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:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004484","label":"Craniofacial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030732","label":"Dysplastic tricuspid valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006394","label":"Limited pronation/supination of forearm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000472","label":"Long neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}