{"orpha":313947,"name":"2q23.1 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(2)(q23.1)","Trisomy 2q23.1"],"definition":"2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313947/","orphanet_url":"https://www.orpha.net/en/disease/detail/313947","names":{"fr":{"name":"Syndrome de microduplication 2q23.1","synonyms":["Dup(2)(q23.1)","Trisomie 2q23.1"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras long du chromosome 2. Il se caractérise principalement par un retard de développement global, une hypotonie, des signes de type autistique et des troubles du comportement. Une dysmorphie craniofaciale (sourcils arqués, hypertélorisme, ptosis bilatéral, nez proéminent, large bouche, micro/rétrognathie) et une personnalité affable sont aussi souvent associées. Des anomalies digitales mineures (clinodactylie des cinquièmes doigts, gros orteils larges) ont été rapportées occasionnellement."},"de":{"name":"Mikroduplikationssyndrom 2q23.1","synonyms":["Dup(2)(q23.1)","Trisomie 2q23.1"],"definition":"Eine seltene Chromosomenanomalie, die aus der partiellen Duplikation des langen Arms von Chromosom 2 resultiert und in erster Linie durch eine globale Entwicklungsverzögerung, Hypotonie, autismusähnliche Merkmale und Verhaltensauffälligkeiten gekennzeichnet ist. Kraniofaziale Dysmorphien (gewölbte Augenbrauen, Hypertelorismus, bilaterale Ptosis, prominente Nase, breiter Mund, Mikro-/Retrognathie) und eine freundliche Persönlichkeit sind ebenfalls häufig assoziiert. Kleinere digitale Anomalien (Klinodaktylie des fünften Fingers und große, breite erste Zehe) wurden gelegentlich berichtet."},"es":{"name":"Síndrome de microduplicación 2q23.1","synonyms":["Dup(2)(q23.1)","Trisomía 2q23.1"],"definition":"Es un síndrome poco frecuente de anomalías cromosómicas resultante de la duplicación parcial del brazo largo del cromosoma 2. Está caracterizado fundamentalmente por retraso global del desarrollo, hipotonía, rasgos autistas y trastornos de conducta. También se asocian con cierta frecuencia dismorfia craneofacial (cejas arqueadas, hipertelorismo, ptosis bilateral, nariz prominente, boca ancha, micro / retrognatia) y una personalidad afable. Ocasionalmente se han descrito anomalías menores de los dedos (clinodactilia del 5º dedo y pulgar del pie ancho y grande)."},"it":{"name":"Sindrome da microduplicazione 2q23.1","synonyms":["Dup(2)(q23.1)","Trisomia 2q23.1"],"definition":"La sindrome da microduplicazione 2q23.1 è un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio lungo del cromosoma 2; è caratterizzata prevalentemente da ritardo dello sviluppo globale, ipotonia, tratti simil-autistici e problemi comportamentali. Spesso i pazienti presentano dismorfismi craniofacciali (sopracciglia arcuate, ipertelorismo, ptosi bilaterale, naso prominente, bocca grande, micro/retrognazia) e personalità socievole. In rari casi, sono presenti lievi anomalie delle dita (clinodattilia del quinto dito e alluci grandi e larghi)."},"nl":{"name":"2q23.1-microduplicatiesyndroom","synonyms":["Dup(2)(q23.1)","Trisomie 2q23.1"],"definition":"2q23.1 microduplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de lange arm van chromosoom 2, en wordt voornamelijk gekarakteriseerd door algehele ontwikkelingsachterstand, hypotonie, autisme-achtige kenmerken en gedragsproblemen. Craniofaciale dysmorfie (gebogen wenkbrauwen, hypertelorisme, bilaterale ptose, uitgesproken neus, brede mond, micro-/retrognathie) en een zachtaardige persoonlijkheid zijn ook regelmatig geassocieerd. Occasioneel werden reeds geringe anomalieën aan vingers/tenen (clinodactylie van de vijfde vinger en grote, brede eerste teen) gerapporteerd."},"pt":{"name":"Sindrome de microduplicação 2q23.1","synonyms":["Dup(2)(q23.1)","Trissomia 2q23.1"]},"pl":{"name":"Zespół mikroduplikacji 2q23.1","synonyms":["Dup(2)(q23.1)","Trisomia 2q23.1"],"definition":"*Zespół mikroduplikacji 2q23.1 jest rzadką aberracją chromosomową, związaną z częściową duplikacją długiego ramienia chromosomu 2, która charakteryzuje się przede wszystkim całościowym opóźnieniem rozwoju, hipotonią, objawami ze spektrum autyzmu oraz zaburzeniami zachowania. Często występuje dysmorfia czaszkowo-twarzowa (łukowate brwi, hiperteloryzm, obustronne opadanie powiek, wydatny nos, szerokie usta, mikro/retrognacja) i przyjazna osobowość. Rzadziej opisywano niewielkie anomalie palców (klinodaktylia piątych palców i szerokie paluchy stóp)."},"cs":{"name":"Mikroduplikační syndrom 2q23.1","synonyms":["Dup(2)(q23.1)","Trizomie 2q23.1"]},"uk":{"name":"Синдром мікродуплікації 2q23.1","synonyms":["Dup(2)(q23.1)","Трисомія 2q23.1"],"definition":"2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported."},"zh":{"name":"2q23.1微重复综合征","synonyms":["2q23.1三体"],"definition":"2q23.1微重复综合征是一种罕见的染色体异常综合征，由2号染色体长臂部分重复引起，主要表现为整体发育迟缓、张力减退、自闭症样特征和行为问题。颅面畸形（眉毛拱起、眼距过宽、双侧上睑下垂、鼻子突出、嘴巴宽大、小颌畸形/下颌后缩）和和蔼可亲的性格也通常与此相关。偶尔也会有轻微的手指异常（第五指弯指和第一趾宽大）。"},"tr":{"name":"2q23.1 mikroduplikasyon sendromu","synonyms":["Dup(2)(q23.1)","Trizomi 2q23.1"]}},"xrefs":[{"source":"OMIM","code":"156200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017786","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707847","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":262842,"name":"Partial duplication of the long arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22085900[PMID]"},{"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":"2019-10-11","source":"23632792[PMID]_22085900[PMID]","terms":[{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very rare (<4-1%)","criteria":null}]}}