{"orpha":261318,"name":"Trisomy 20p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(20p)","Duplication of 20p","Partial duplication of chromosome 20p","Partial duplication of the short arm of chromosome 20","Partial trisomy of chromosome 20p","Partial trisomy of the short arm of chromosome 20"],"definition":"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261318/","orphanet_url":"https://www.orpha.net/en/disease/detail/261318","names":{"fr":{"name":"Syndrome de trisomie 20p","synonyms":["Dup(20p)","Duplication 20p","Duplication partielle du bras court du chromosome 20","Duplication partielle du chromosome 20p","Trisomie partielle du bras court du chromosome 20","Trisomie partielle du chromosome 20p"],"definition":"La trisomie 20p est une maladie chromosomique résultant de la duplication de tout ou partie du bras court du chromosome 20. Elle est le plus souvent caractérisée par une croissance normale, un déficit intellectuel léger à modéré, un trouble du langage et de la coordination et une dysmorphie faciale."},"de":{"name":"Trisomie 20p","synonyms":["Chromosom 20, partielle Duplikation des kurzen Arms","Chromosom 20p-Duplikation, partielle","Dup(20p)","Duplikation 20p","Partielle Trisomie des Chromosoms 20p","Partielle Trisomie des kurzen Arms von Chromosom 20"],"definition":"Die Trisomie 20p ist eine Chromosomenstörung mit Duplizierung eines Teiles oder des gesamten kurzen Arms des Chromosoms 20. Klinische Zeichen sind ein meist normales Wachstum, leichte bis mäßige geistige Behinderung, verzögerte Sprachentwicklung, schlechte Koordination und auffallende Merkmale des Gesichts."},"es":{"name":"Síndrome de trisomía 20p","synonyms":["Dup(20p)","Duplicación de 20p","Duplicación parcial del brazo corto del cromosoma 20","Duplicación parcial del cromosoma 20p","Trisomía parcial del brazo corto del cromosoma 20","Trisomía parcial del cromosoma 20p"],"definition":"La trisomía 20p es un trastorno cromosómico que resulta de la duplicación de todo o parte del brazo corto del cromosoma 20. Se caracteriza principalmente por un crecimiento normal, una discapacidad de grado leve a moderado, retraso en el habla, coordinación pobre y rasgos faciales reconocibles."},"it":{"name":"Sindrome trisomia 20p","synonyms":["Duplicazione 20p","Dup(20p)","Duplicazione parziale del braccio corto del cromosoma 20","Duplicazione parziale del cromosoma 20p","Trisomia parziale del braccio corto del cromosoma 20","Trisomia parziale del cromosoma 20p"]},"nl":{"name":"Trisomie 20p-syndroom","synonyms":["Dup(20p)","Duplicatie van 20p","Partiële duplicatie van chromosoom 20p","Partiële duplicatie van de korte arm van chromosoom 20","Partiële trisomie van chromosoom 20p","Partiële trisomie van de korte arm van chromosoom 20"],"definition":"Trisomie 20p is een chromosoomafwijking die het resultaat is van duplicatie van de volledige of een deel van de korte arm van chromosoom 20. Ze wordt meestal gekenmerkt door normale groei, milde tot matige intellectuele achterstand, spraakachterstand, slechte coördinatie en suggestieve gelaatskenmerken."},"pt":{"name":"Trissomia 20p"},"pl":{"name":"Zespół trisomii 20p","synonyms":["Częściowa duplikacja chromosomu 20p","Częściowa duplikacja krótkiego ramienia chromosomu 20","Częściowa trisomia chromosomu 20p","Częściowa trisomia krótkiego ramienia chromosomu 20","Dup(20p)","Duplikacja 20p"]},"cs":{"name":"Trizomie 20p","synonyms":["Dup(20p)","Duplikace 20p","Parciální duplikace chromozomu 20p","Parciální duplikace krátkého raménka chromozomu 20","Parciální trizomie chromozomu 20p","Parciální trizomie krátkého raménka chromozomu 20"]},"uk":{"name":"Трисомія 20p","synonyms":["Dup(20p)","Дуплікація 20p","Часткова дуплікація хромосоми 20p","Часткова дуплікація короткого плеча хромосоми 20","Часткова трисомія хромосоми 20р","Часткова трисомія короткого плеча хромосоми 20"],"definition":"Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features."},"zh":{"name":"20号染色体短臂三体","synonyms":["20号染色体短臂部分重复"],"definition":"20号染色体短臂三体是由20号染色体短臂的全部或部分重复引起的一种染色体疾病，其主要特征是生长正常，轻度至中度智力障碍，言语迟缓，协调性差和特殊面容。"},"tr":{"name":"Trizomi 20p","synonyms":["Dup(20p)","20p'nin çoğaltılması","20p kromozomunun kısmi trizomisi","20p kromozomunun kısmi kopyalanması","20. kromozomun kısa kolunun kısmi trizomisi","20. kromozomun kısa kolunun kısmi kopyalanması"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.K1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1396883815"},{"source":"MONDO","code":"0016844","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535371","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930888","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5333","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262692,"name":"Partial duplication of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","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:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","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}]}}