{"orpha":250994,"name":"1q21.1 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(1)(q21.1)","Trisomy 1q21.1"],"definition":"1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250994/","orphanet_url":"https://www.orpha.net/en/disease/detail/250994","names":{"fr":{"name":"Syndrome de microduplication 1q21.1","synonyms":["Dup(1)(q21.1)","Trisomie 1q21.1"],"definition":"Trisomie/tétrasomie partielle rare des autosomes à pénétrance incomplète et expression variable caractérisée par une macrocéphalie, un retard de développement, une déficience intellectuelle, des troubles psychiatriques (troubles du spectre de l'autisme, trouble déficitaire de l'attention avec hyperactivité, schizophrénie, troubles de l'humeur) et une légère dysmorphie faciale (front haut, hypertélorisme). Les autres caractéristiques associées sont des malformations cardiaques congénitales, une hypotonie, une petite taille et une scoliose."},"de":{"name":"Mikroduplikationssyndrom 1q21.1","synonyms":["Dup(1)(q21.1)","Trisomie 1q21.1"]},"es":{"name":"Síndrome de microduplicación 1q21.1","synonyms":["Dup(1)(q21.1)","Trisomía 1q21.1"],"definition":"El síndrome de microduplicación 1q21.1, es una trisomía / tetrasomía autosómica parcial poco frecuente, con penetrancia incompleta y expresión variable, caracterizado por macrocefalia, retraso del desarrollo, discapacidad intelectual, trastornos psiquiátricos (trastorno del espectro autista, trastorno por déficit de atención e hiperactividad, esquizofrenia, trastornos del estado de ánimo) y dismorfia facial leve (frente ancha, hipertelorismo). Otras características incluyen defectos cardíacos congénitos, hipotonía, talla baja y escoliosis."},"it":{"name":"Sindrome da microduplicazione 1q21.1","synonyms":["Dup(1)(q21.1)","Trisomia 1q21.1"],"definition":"La sindrome da microduplicazione 1q21.1 è una trisomia/tetrasomia autosomica parziale rara, a penetranza incompleta ed espressione variabile, caratterizzata da macrocefalia, ritardo dello sviluppo, disabilità intellettiva, disturbi psichiatrici (disturbo dello spettro autistico, deficit dell'attenzione con iperattività, schizofrenia, disturbi dell'umore) e dismorfismi facciali sfumati (fronte alta, ipertelorismo). Altri segni clinici sono le cardiopatie congenite, l'ipotonia, la bassa statura e la scoliosi."},"nl":{"name":"1q21.1-microduplicatiesyndroom","synonyms":["Dup(1)(q21.1)","Trisomie 1q21.1"],"definition":"1q21.1 microduplicatiesyndroom is een zeldzame partiële autosomale trisomie/tetrasomie met onvolledige penetrantie en variabele expressie, en wordt gekarakteriseerd door macrocefalie, ontwikkelingsachterstand, intellectuele achterstand, psychiatrische stoornissen (autismespectrumstoornis, aandachtstekortstoornis met hyperactiviteit, schizofrenie, gemoedsstoornissen) en milde faciale dysmorfie (hoog voorhoofd, hypertelorisme). Andere geassocieerde kenmerken zijn onder meer congenitale hartdefecten, hypotonie, kleine gestalte, en scoliose."},"pt":{"name":"Síndrome de microduplicação 1q21.1","synonyms":["Trissomia 1q21.1"]},"pl":{"name":"Zespół mikroduplikacji 1q21.1","synonyms":["Dup(1)(q21.1)","Trisomia 1q21.1"],"definition":"*Zespół mikroduplikacji 1q21.1 to rzadka częściowa trisomia/tetrasomia autosomu z niepełną penetracją i zmienną ekspresją, która charakteryzuje się makrocefalią (wielkogłowiem), opóźnieniem rozwoju, niepełnosprawnością intelektualną, zaburzeniami psychicznymi (zaburzenia ze spektrum autyzmu, zespół nadpobudliwości psychoruchowej z deficytem uwagi - ADHD, schizofrenia, zaburzenia nastroju) i łagodną dysmorfią twarzy (wysokie czoło, hiperteloryzm). Inne towarzyszące objawy obejmują wrodzone wady serca, obniżenie napięcia mięśniowego, niski wzrost oraz skoliozę."},"cs":{"name":"Syndrom mikroduplikace 1q21.1","synonyms":["Dup(1)(q21.1)","Trizomie 1q21.1"]},"uk":{"name":"Синдром мікродуплікації 1q21.1","synonyms":["Dup(1)(q21.1)","Трисомія 1q21.1"],"definition":"1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis."},"zh":{"name":"染色体1q21.1微重复综合征","synonyms":["1q21.1三体"],"definition":"1q21.1微重复综合征是一种罕见的部分常染色体三体/四体，外显不全，表现为大头畸形、发育迟缓、智能障碍、精神障碍(自闭症谱系障碍、注意缺陷多动障碍、精神分裂症、情绪障碍)和轻度面部畸形(高额头、眼距过宽)。其他相关特征包括先天性心脏病、肌张力低下、身材矮小、脊柱侧弯。"},"tr":{"name":"1q21.1 mikroduplikasyon sendromu","synonyms":["Dup (1) (q21.1)","Trizomi 1q21.1"]}},"xrefs":[{"source":"OMIM","code":"612475","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1655130034"},{"source":"MONDO","code":"0012915","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749853","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10591","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":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":46.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}