{"orpha":276422,"name":"10q22.3q23.3 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(10)(q22.3q23.3)","Trisomy 10q22.3q23.3"],"definition":"A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276422/","orphanet_url":"https://www.orpha.net/en/disease/detail/276422","names":{"fr":{"name":"Syndrome de microduplication 10q22.3q23.3","synonyms":["Dup(10)(q22.3q23.3)","Trisomie 10q22.3q23.3"],"definition":"Anomalie chromosomique rare caractérisée par des signes cliniques variables pouvant inclure un retard de développement, une légère déficience intellectuelle et une dysmorphie faciale. Une microcéphalie, un retard de croissance et des malformations cardiaques congénitales ont été rapportés dans certains cas."},"de":{"name":"Mikroduplikationssyndrom 10q22.3q23.3","synonyms":["Dup(10)(q22.3q23.3)","Trisomie 10q22.3q23.3"]},"es":{"name":"Síndrome de microduplicación 10q22.3q23.3","synonyms":["Dup(10)(q22.3q23.3)","Trisomía 10q22.3q23.3"],"definition":"El síndrome de microduplicación 10q22.3q23.3 es un síndrome de anomalías cromosómicas poco frecuente que se caracteriza por rasgos clínicos variables que pueden incluir retraso en el desarrollo, discapacidad intelectual leve y características faciales dismórficas. En algunos casos, se ha descrito microcefalia, retraso en el crecimiento y defectos cardíacos congénitos."},"it":{"name":"Sindrome da microduplicazione 10q22.3q23.3","synonyms":["Dup(10)(q22.3q23.3)","Trisomia 10q22.3q23.3"],"definition":"La sindrome da microduplicazione 10q22.3q23.3 è un'anomalia cromosomica rara, caratterizzata da un quadro clinico variabile, che comprende il ritardo dello sviluppo, la disabilità intellettiva lieve e i dismorfismi facciali. Alcuni pazienti presentano anche microcefalia, ritardo della crescita e cardiopatia congenita."},"nl":{"name":"10q22.3q23.3-microduplicatiesyndroom","synonyms":["Dup(10)(q22.3q23.3)","Trisomie 10q22.3q23.3"],"definition":"10q22.3q23.3 microduplicatiesyndroom is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door variabele klinische kenmerken waaronder mogelijk ontwikkelingsachterstand, milde intellectuele beperking en dysmorfe gelaatskenmerken. In sommige gevallen werden microcefalie, groeiretardatie en congenitale hartdefecten gerapporteerd."},"pt":{"name":"Síndrome de microduplicação 10q22.3q23.3"},"pl":{"name":"Zespół mikroduplikacji 10q22.3q23.3","synonyms":["Dup(10)(q22.3q23.3)","Trisomia 10q22.3q23.3"]},"cs":{"name":"Syndrom mikroduplikace 10q22.3q23.3","synonyms":["Dup(10)(q22.3q23.3)","Trizomie 10q22.3q23.3"]},"uk":{"name":"Синдром мікродуплікації 10q22.3q23.3","synonyms":["Dup(10)(q22.3q23.3)","Трисомія 10q22.3q23.3"],"definition":"A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported."},"zh":{"name":"10q22.3q23.3微重复综合征","synonyms":["10q22.3q23.3三体"],"definition":"10q22.3q23.3微重复综合征是一种罕见的染色体异常，其临床特征包括发育迟缓、轻度智力残疾和面部畸形。有报道表现为小头畸形，生长迟缓和先天性心脏病。"},"tr":{"name":"10q22.3q23.3 mikroduplikasyon sendromu","synonyms":["Dup(10)(q22.3q23.3)","Trizomi 10q22.3q23.3"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.90","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1602478947"},{"source":"MONDO","code":"0017180","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190512","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262914,"name":"Partial duplication of the long arm of chromosome 10 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","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:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}