{"orpha":314034,"name":"7p22.1 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(7)(p22.1)","Trisomy 7p22.1"],"definition":"7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314034/","orphanet_url":"https://www.orpha.net/en/disease/detail/314034","names":{"fr":{"name":"Syndrome de microduplication 7p22.1","synonyms":["Dup(7)(p22.1)","Trisomie 7p22.1"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la microduplication interstitielle partielle du bras court du chromosome 7. Il se caractérise par un déficit intellectuel, un retard de développement psychomoteur et du langage, une dysmorphie craniofaciale (incluant une macrocéphalie, une bosse frontale, un hypertélorisme, des fentes palpébrales obliques anormales, des narines antéversées, des oreilles implantées basses, une microrétrognathie) et une cryptorchidie. Des anomalies cardiaques (comme la persistance du foramen ovale, une communication interatriale) ont aussi été associées, ainsi que des anomalies rénales, squelettiques et oculaires."},"de":{"name":"Mikroduplikationssyndrom 7p22.1","synonyms":["Dup(7)(p22.1)","Trisomie 7p22.1"],"definition":"Das Mikroduplikationssyndrom 7p22.1 ist ein seltene Chromosomenanomalie, die aus einer partiellen interstitiellen Mikroduplikation des kurzen Arms von Chromosom 7 resultiert. Das Syndrom ist gekennzeichnet durch Intelligenzminderung, psychomotorische und sprachliche Verzögerungen, kraniofaziale Dysmorphien (einschließlich Makrozephalie, prominente Stirn, Hypertelorismus, schräge Lidspalten, antevertierte Nasenlöcher, tief angesetzte Ohren, Mikroretrognathie) und Kryptorchidie. Herzfehlbildungen (z. B. offenes Foramen ovale und Vorhofseptumdefekt), sowie Nieren-, Skelett- und Augenanomalien können ebenfalls assoziiert sein."},"es":{"name":"Síndrome de microduplicación 7p22.1","synonyms":["Dup(7)(p22.1)","Trisomía 7p22.1"],"definition":"El síndrome de microduplicación 7p22.1 es un síndrome por anomalía cromosómica poco frecuente, que resulta de una microduplicación intersticial parcial del brazo corto del cromosoma 7. Está caracterizado por discapacidad intelectual, retrasos psicomotor y del habla, dismorfia craneofacial (que incluye macrocefalia, frente prominente, hipertelorismo, fisuras palpebrales de inclinación anómala, narinas antevertidas, orejas de baja implantación, microretrognatia) y criptorquidia. También se pueden asociar anomalías cardíacas (p. ej., foramen oval permeable y comunicación interauricular), así como anomalías renales, esqueléticas y oculares."},"it":{"name":"Sindrome da microduplicazione 7p22.1","synonyms":["Dup(7)(p22.1)","Trisomia 7p22.1"],"definition":"La sindrome da microduplicazione 7p22.1 è un'anomalia cromosomica rara, causata dalla microduplicazione interstiziale parziale del braccio corto del cromosoma 7. È caratterizzata da disabilità intellettiva, ritardo psicomotorio e del linguaggio, dismorfismi craniofacciali (macrocefalia, fronte bombata, ipertelorismo, taglio anomalo delle rime palpebrali, narici anteverse, orecchie a basso impianto, microretrognazia) e criptorchidismo. Possono associarsi cardiopatie (forame ovale pervio e difetto del setto interatriale) e anomalie renali, scheletriche e oculari."},"nl":{"name":"7p22.1-microduplicatiesyndroom","synonyms":["Dup(7)(p22.1)","Trisomie 7p22.1"],"definition":"7p22.1 microduplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële interstitiële microduplicatie van de korte arm van chromosoom 7, en wordt gekarakteriseerd door intellectuele achterstand, psychomotorische en spraakachterstand, craniofaciale dysmorfie (waaronder macrocefalie, een boller voorhoofd, hypertelorisme, abnormaal schuine ooglidspleten, opengesperde neusgaten, laagstaande oren, micro-/retrognathie) en cryptorchidie. Afwijkingen van het hart (e.g. persisterend foramen ovale en atriumseptumdefect), alsook van de nieren, het skelet en de ogen kunnen geassocieerd zijn."},"pt":{"name":"Síndrome da microduplicação 7p22.1","synonyms":["Dup(7)(p22.1)","Trissomia 7p22.1"]},"pl":{"name":"Zespół mikroduplikacji 7p22.1","synonyms":["Dup(7)(p22.1)","Trisomia 7p22.1"]},"cs":{"name":"Mikroduplikační syndrom 7p22.1","synonyms":["Dup(7)(p22.1)","Trizomie 7p22.1"]},"uk":{"name":"Синдром мікродуплікації 7p22.1","synonyms":["Dup(7)(p22.1)","Трисомія 7p22.1"],"definition":"7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated."},"zh":{"name":"7p22.1微重复综合征","synonyms":["7p22.1三体"],"definition":"7p22.1微重复综合征是一种罕见的染色体异常综合征，由7号染色体短臂的部分间质微复制引起，其特征是智力障碍、精神运动和语言迟缓、颅面畸形（包括巨颅畸形、额凸、眼距过宽、眼睑裂异常倾斜、鼻孔前倾、耳低位、小颌畸形/下颌后缩）和隐睾。也可表现为心脏（如卵圆孔未闭和房间隔缺损）以及肾脏、骨骼和眼部异常。"},"tr":{"name":"7p22.1 mikroduplikasyon sendromu","synonyms":["Dup(7)(p22.1)","Trizomi 7p22.1"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017792","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707093","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":262749,"name":"Partial duplication of the short arm of chromosome 7 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26297194[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"26297194[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-24","source":"25893121[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null}]}}