{"orpha":363659,"name":"20q11.2 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(20)(q11.2)"],"definition":"20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363659/","orphanet_url":"https://www.orpha.net/en/disease/detail/363659","names":{"fr":{"name":"Syndrome de microduplication 20q11.2","synonyms":["Dup(20)(q11.2)"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras long du chromosome 20. Il se caractérise par un retard de développement et psychomoteur, un déficit intellectuel modéré, des sutures métopiques/une trigonocéphalie, de petites mains et/ou pieds, et une dysmorphie faciale caractéristique (épicanthus, crêtes supra-orbitaires hypoplasiques, fentes palpébrales horizontales/obliques en bas et en dehors, petit nez avec un pont nasal déprimé et des narines antéversées, joues proéminentes, rétrognathie, petites oreilles épaisses). Une cryptorchidie et un retard de croissance sont souvent associés."},"de":{"name":"Mikroduplikationssyndrom 20q11.2","synonyms":["Dup(20)(q11.2)"],"definition":"Das Mikroduplikationssyndrom 20q11.2 ist ein seltene Chromosomenanomalie, die aus einer partiellen Duplikation des langen Arms von Chromosom 20 resultiert. Das Syndrom ist gekennzeichnet durch psychomotorische und allgemeine Entwicklungsverzögerung, mäßige Intelligenzminderung, metopische Leiste/Trigonozephalie, kurze Hände und/oder Füße und ausgeprägte Gesichtszüge (Epikanthus, hypoplastische supraorbitale Kämme, horizontale/schräg abwärts verlaufende Lidspalten, kleine Nase mit vertieftem Nasenrücken und antevertierten Nasenlöchern, vorstehende Wangen, Retrognathie und kleine, dicke Ohren). Wachstumsverzögerung und Kryptorchismus sind häufig assoziierte Merkmale."},"es":{"name":"Síndrome de microduplicación 20q11.2","synonyms":["Dup(20)(q11.2)"],"definition":"El síndrome de microduplicación 20q11.2 es una anomalía cromosómica poco frecuente debida a la duplicación parcial del brazo largo del cromosoma 20. Se caracteriza por retraso del desarrollo psicomotor, discapacidad intelectual moderada, cresta metópica prominente/trigonocefalia, manos y pies cortos, y rasgos faciales distintivos (epicanto, crestas supraorbitales hipoplásicas, fisuras palpebrales horizontales / descendentes, nariz pequeña con puente nasal deprimido y fosas nasales antevertidas, mejillas prominentes, retrognatia y orejas pequeñas y gruesas). A menudo se asocia retraso en el crecimiento y criptorquidia."},"it":{"name":"Sindrome da microduplicazione 20q11.2","synonyms":["Dup(20)(q11.2)"],"definition":"La sindrome da microduplicazione 20q11.2 è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio lungo del cromosoma 20. È caratterizzata da ritardo psicomotorio e dello sviluppo, disabilità intellettiva moderata, cresta metopica/trigonocefalia, accorciamento delle mani e/o dei piedi e dismorfismi facciali caratteristici (epicanto, ipoplasia delle arcate sopraorbitali, rime palpebrali orizzontali/oblique verso il basso, naso piccolo con sella nasale infossata e narici anteverse, guance prominenti, retrognazia e orecchie piccole e ispessite). Spesso si associano il ritardo della crescita e il criptorchidismo. ."},"nl":{"name":"20q11.2-microduplicatiesyndroom","synonyms":["Dup(20)(q11.2)"],"definition":"20q11.2 microduplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 20, en wordt gekarakteriseerd door psychomotorische achterstand, ontwikkelingsachterstand, matige intellectuele achterstand, metopische rand/trigonocefalie, korte handen en/of voeten en typische gelaatskenmerken (epicanthus, hypoplastische supraorbitale randen, horizontale/neerwaartse ooglidspleten, kleine neus met ingedrukte neusbrug en wijd openstaande neusgaten, uitgesproken wangen, retrognathie en kleine, dikke oren). Groeiachterstand en cryptorchidie zijn vaak geassocieerde kenmerken."},"pt":{"name":"Síndrome de microduplicação 20q11.2"},"pl":{"name":"Zespół mikrodupikacji 20q11.2","synonyms":["Dup(20)(q11.2)"]},"cs":{"name":"Mikroduplikační syndrom 20q11.2","synonyms":["Dup(20)(q11.2)"]},"uk":{"name":"Синдром мікродуплікації 20q11.2","synonyms":["Dup(20)(q11.2)"],"definition":"20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features."},"zh":{"name":"20q11.2微复制综合征","synonyms":["20q11.2重复"],"definition":"20q11.2微重复综合征是一种罕见的染色体异常综合征，由20号染色体长臂部分重复引起，本病的特征包括精神运动和发育迟缓、中度智力残疾、斜视/三角头畸形、短手和/或短脚和明显的面部特征(内眦赘皮、眶上嵴发育不良、水平/下斜睑裂、鼻梁凹陷、鼻孔前倾、面颊突出、下颌后倾和小而厚的耳朵)。生长迟缓和隐睾症也是本病常见的相关特征。"},"tr":{"name":"20q11.2 mikroduplikasyon sendromu","synonyms":["Dup(20)(q11.2)"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706257","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262995,"name":"Partial duplication of the long arm of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"23704076[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-12","source":"23704076[PMID]","terms":[{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011825","label":"Tented philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200005","label":"Abnormal shape of the palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000422","label":"Abnormality of the nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031008","label":"Lingual dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009894","label":"Thickened ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}