{"orpha":261344,"name":"Trisomy 1q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 1q"],"definition":"Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261344/","orphanet_url":"https://www.orpha.net/en/disease/detail/261344","names":{"fr":{"name":"Syndrome de trisomie 1q","synonyms":["Duplication 1q"],"definition":"Un syndrome d'anomalie chromosomique rare, cause par la duplication partielle du long bras du chromosome 1. Le phénotype est très variable, et se caractérise principalement par un déficit intellectuel, une petite taille, une dysmorphie craniofaciale (incluant une macro-/microcéphalie, un front proéminent, des oreilles implantées basses, ourlées vers l'arrière, des fentes palpébrales anormales, une microphtalmie, un pont nasal plat et large, un palais ogival, une micro-/rétrognathie), ainsi que des anomalies cardiaques et urogénitales. Les patients peuvent aussi présenter des malformations cérébrales (comme une ventriculomégalie) et gastro-intestinales, ainsi qu'un tremblement dystonique et des infections récurrentes des voies respiratoires."},"de":{"name":"Trisomie 1q","synonyms":["Duplikation 1q"],"definition":"Die Trisomie 1q ist eine seltene Chromosomenanomalie, die aus der partiellen Duplikation des langen Arms von Chromosom 1 resultiert und einen hochvariablen Phänotyp aufweist, der hauptsächlich durch Intelligenzminderung, Kleinwuchs, kraniofazialen Dysmorphien (Makro-/Mikrozephalie, prominente Stirn, nach hinten gedrehte, tief angesetzte Ohren, abnorme Lidspalten, Mikrophthalmie, breiter, flacher Nasenrücken, hochgewölbter Gaumen, Mikro-/Retrognathie), Herzfehler und urogenitale Anomalien gekennzeichnet ist. Die Patienten können auch zerebrale (z. B. Ventrikulomegalie) und gastrointestinale Fehlbildungen sowie einen dystonen Tremor und rezidivierende Atemwegsinfektionen aufweisen."},"es":{"name":"Síndrome de trisomía 1q","synonyms":["Duplicación 1q"],"definition":"La trisomía 1q es una anomalía cromosómica poco frecuente, que resulta de la duplicación parcial del brazo largo del cromosoma 1, con un fenotipo altamente variable que se caracteriza principalmente por discapacidad intelectual, talla baja, dismorfia craneofacial (incluyendo macro/microcefalia, frente prominente, orejas de baja implantación y rotadas posteriormente, fisuras palpebrales anómalas, microftalmia, puente nasal ancho y plano, paladar alto y arqueado, micro/retrognatia), defectos cardíacos y anomalías urogenitales. Los afectados también pueden presentar malformaciones cerebrales (p. ej. ventriculomegalia) y gastrointestinales, así como también temblores distónicos e infecciones recurrentes del tracto respiratorio."},"it":{"name":"Sindrome trisomia 1q","synonyms":["Duplicazione 1q","Duplicazione 1q in mosaico"],"definition":"La trisomia 1q è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 1; il quadro clinico è molto variabile ed è prevalentemente caratterizzato da disabilità intellettiva, bassa statura, dismorfismi craniofacciali (macro/microcefalia, fronte prominente, orecchie a basso impianto ruotate posteriormente, anomalie delle rime palpebrali, microftalmia, sella nasale ampia e appiattita, palato ogivale, micro/retrognazia), cardiopatie e anomalie uro-genitali. Inoltre, i pazienti possono presentare malformazioni cerebrali (ventricolomegalia) e gastrointestinali, tremori distonici e infezioni ricorrenti delle vie respiratorie."},"nl":{"name":"Trisomie 1q-syndroom","synonyms":["Duplicatie 1q"],"definition":"Trisomie 1q is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 1, en heeft een zeer variabel fenotype dat voornamelijk gekarakteriseerd wordt door intellectuele achterstand, kleine gestalte, craniofaciale dysmorfie (incl. macro-/microcefalie, groot voorhoofd, naar achter gedraaide en laagstaande oren, abnormale ooglidspleten, microftalmie, brede en platte neusbrug, hoog gebogen verhemelte, micro-/retrognathie), hartdefecten en urogenitale anomalieën. Mogelijk vertonen patiënten ook cerebrale (e.g. ventriculomegalie) en gastro-intestinale malformaties, alsook dystonische tremor en terugkerende infecties van de luchtwegen."},"pt":{"name":"Trissomia 1q em mosaico"},"pl":{"name":"Zespół trisomii 1q","synonyms":["Duplikacja 1q"]},"cs":{"name":"Trizomie 1q","synonyms":["Duplikace 1q"]},"uk":{"name":"Трисомія 1q","synonyms":["Дуплікація 1q"],"definition":"Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections."},"zh":{"name":"1号染色体长臂三体","synonyms":["1号染色体长臂重复"],"definition":"1号染色体长臂三体是一种罕见的染色体异常综合征，由1号染色体长臂部分重复引起，具有高度变异的表型，主要特征是智力障碍、身材矮小、颅面畸形(包括大头/小头畸形、额头突出、后旋低位耳、眼裂异常、小眼球、鼻梁宽而平、高腭弓、小颌畸形/下颌后缩)、心脏缺陷和泌尿生殖系统异常。患者还可能出现脑部(如脑室增大)和胃肠道畸形，以及肌张力障碍性震颤和反复呼吸道感染。"},"tr":{"name":"Trizomi 1q","synonyms":["Duplikasyon 1q"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016847","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4708596","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262833,"name":"Partial duplication of the long arm of chromosome 1 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28437579[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"28437579[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008386","label":"Aplasia/Hypoplasia of the nails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008676","label":"Congenital megaureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}