{"orpha":261337,"name":"Distal 22q11.2 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal dup(22)(q11.2)","Distal trisomy 22q11.2"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261337/","orphanet_url":"https://www.orpha.net/en/disease/detail/261337","names":{"fr":{"name":"Syndrome de microduplication 22q11.2 distale","synonyms":["Dup(22)(q11.2) distale","Trisomie 22q11.2 distale"],"definition":"Syndrome d'anomalie chromosomique rare, résultant de la duplication partielle du bras long du chromosome 22, dont le phénotype très inconstant est caractérisé principalement par un retard de développement, une déficience intellectuelle, des troubles du comportement et une dysmorphie craniofaciale non spécifique. Des malformations cardiaques congénitales, une atteinte visuelle et auditive, des anomalies urogénitales et des convulsions ont également été rapportées. La pénétrance est incomplète. Dans 70 % des cas, la duplication est transmise par un parent asymptomatique."},"de":{"name":"Mikroduplikationssyndrom 22q11.2, distal","synonyms":["Dup(22)(q11.2)","Trisomie 22q11.2, distal"],"definition":"Ein seltenes Chromosomenanomalie-Syndrom, das aus einer partiellen Duplikation des langen Arms von Chromosom 22 resultiert und einen sehr variablen Phänotyp aufweist, der hauptsächlich durch Entwicklungsverzögerung, Intelligenzminderung, Verhaltensanomalien und unspezifische kraniofaziale Dysmorphien gekennzeichnet ist. Es wurde auch über angeborene Fehlbildungen des Herzens, Seh- und Hörstörungen, urogenitale Anomalien und Krampfanfälle berichtet. Die Penetranz ist unvollständig. In 70 % der Fälle wird die Duplikation von einem asymptomatischen Elternteil vererbt."},"es":{"name":"Síndrome de microduplicación terminal 22q11.2","synonyms":["Dup(22)(q11.2) terminal","Trisomía terminal 22q11.2"],"definition":"Es un síndrome de anomalía cromosómica poco frecuente, resultante de la duplicación parcial del brazo largo del cromosoma 22. Presenta un fenotipo altamente variable, caracterizado principalmente por retraso psicomotor, discapacidad intelectual, trastornos de conducta y dismorfia craneofacial inespecífica. También se han descrito malformaciones cardíacas congénitas, afectación visual y auditiva, anomalías urogenitales y crisis epilépticas. La penetrancia es incompleta. En el 70% de los casos, la duplicación se hereda de un progenitor asintomático."},"it":{"name":"Sindrome da microduplicazione 22q11.2 distale","synonyms":["Dup(22)(q11.2) distale","Trisomia 22q11.2 distale"],"definition":"Si tratta di un'anomalia cromosomica rara, causata dalla duplicazione parziale del braccio lungo del cromosoma 22; il quadro clinico è molto variabile ed è caratterizzato prevalentemente dal ritardo dello sviluppo, disabilità intellettiva, anomalie del comportamento e dismorfismi craniofacciali aspecifici. Sono stati descritti pazienti con cardiopatie congenite, compromissione della vista e dell'udito, anomalie urogenitali e crisi epilettiche. La penetranza è incompleta. Nel 70% dei casi, la duplicazione è trasmessa da un genitore asintomatico."},"nl":{"name":"Distale 22q11.2-microduplicatiesyndroom","synonyms":["Distale dup(22)(q11.2)","Distale trisomie 22q11.2"],"definition":"Een zeldzaam syndroom van chromosomale anomalie als gevolg van partiële duplicatie van de lange arm van chromosoom 22, met een zeer variabel fenotype, hoofdzakelijk gekarakteriseerd door ontwikkelingsachterstand, intellectuele achterstand, gedragsanomalieën, en aspecifieke craniofaciale dysmorfie. Congenitale hartmalformaties, verlies van gezichtsvermogen en slechthorendheid, urogenitale anomalieen, en insulten werden ook reeds gerapporteerd. Penetrantie is onvolledig In 70% van de gevallen wordt de duplicatie overgeërfd van een asymptomatische ouder."},"pt":{"name":"Síndrome de microduplicação distal 22q11.2","synonyms":["Trissomia distal 22q11.2"]},"pl":{"name":"Zespół mikroduplikacji dystalnej 22q11.2","synonyms":["Dystalna dup(22)(q11.2)","Trisomia dystalna 22q11.2"]},"cs":{"name":"Syndrom distální mikroduplikace 22q11.2","synonyms":["Distální dup(22)(q11.2)","Distální trizomie 22q11.2"]},"uk":{"name":"Синдром дистальної мікродуплікації 22q11.2","synonyms":["Дистальна дуплікація (22)(q11.2)","Дистальна трисомія 22q11.2"],"definition":"A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent."},"zh":{"name":"22q11.2远端微重复综合征","synonyms":["22q11.2远端三体"],"definition":"22q11.2远端微重复综合征是一种罕见的染色体异常综合征，是由22号染色体长臂部分重复引起的，具有高度可变的表型，主要特征是发育迟缓、智力障碍、肌张力低下、生长迟缓、腭咽闭合不全、轻度颅面畸形(小头畸形、额头高/宽、眼裂小下斜、眼睑垂赘、鼻梁平坦、后方发际线低)和手指畸形。先天性心脏畸形、视力和听力障碍、泌尿生殖系统异常、行为问题和癫痫也有报道。"},"tr":{"name":"Distal 22q11.2 mikroduplikasyon sendromu","synonyms":["Distal dup (22) (q11.2)","Distal trizomi 22q11.2"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.M","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1992622390"},{"source":"MONDO","code":"0016846","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706942","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263004,"name":"Partial duplication of the long arm of chromosome 22 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Childhood","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:0011039","label":"Abnormal helix morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009795","label":"Branchial fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001836","label":"Camptodactyly of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","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:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}