{"orpha":1713,"name":"17p11.2 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Potocki-Lupski syndrome","Trisomy 17p11.2"],"definition":"17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1713/","orphanet_url":"https://www.orpha.net/en/disease/detail/1713","names":{"fr":{"name":"Syndrome de microduplication 17p11.2","synonyms":["Syndrome de Potocki-Lupski","Trisomie 17p11.2"],"definition":"Le syndrome de microduplication 17p11.2 est un syndrome d'anomalie chromosomique rare, causé par la duplication partielle du bras court du chromosome 17. Il se caractérise habituellement par une hypotonie, des troubles de l'alimentation, un retard de croissance staturo-pondérale, un retard de développement (surtout des troubles cognitifs et du langage), un déficit intellectuel léger à modéré et des troubles neuropsychiatriques (troubles du comportement, anxiété, trouble de l'attention avec hyperactivité, troubles du spectre autistique, trouble bipolaire). Des anomalies cardiovasculaires structurelles (racine aortique dilatée, valve aortique bicommissurale, communication auriculaires/ventriculaires et anomalies septales), et des troubles du sommeil (apnée centrale et obstructive du sommeil) sont aussi fréquemment associés."},"de":{"name":"Mikroduplikationssyndrom 17p11.2","synonyms":["Potocki-Lupski-Syndrom","Trisomie 17p11.2"],"definition":"Das Mikroduplikationssyndrom 17p11.2 ist eine seltene Chromosomenanomalie, die aus der partiellen Duplikation des kurzen Arms von Chromosom 17 resultiert. Sie ist typischerweise gekennzeichnet durch Hypotonie, schlechte Ernährung, Gedeihstörung, Entwicklungsverzögerung (insbesondere kognitive und sprachliche Defizite), leichte bis mittelschwere intellektuelle Defizite und neuropsychiatrische Störungen (Verhaltensprobleme, Angstzustände, Aufmerksamkeitsdefizit-Hyperaktivitätsstörung, Autismus-Spektrum-Störung, bipolare Störung). Strukturelle kardiovaskuläre Anomalien (dilatierte Aortenwurzel, bikommissurale Aortenklappe, atriale/ventrikuläre und septale Defekte) und Schlafstörungen (obstruktive und zentrale Schlafapnoe) sind ebenfalls häufig assoziiert."},"es":{"name":"Síndrome de microduplicación 17p11.2","synonyms":["Síndrome de Potocki-Lupski","Trisomía 17p11.2"],"definition":"El síndrome de microduplicación 17p11.2 es un síndrome raro debido a anomalías cromosómicas resultante de la duplicación parcial del brazo corto del cromosoma 17. Por lo habitual, se caracteriza por hipotonía, dificultades para la alimentación, falta de crecimiento, retraso del desarrollo (particularmente déficit cognitivo y del lenguaje), discapacidad intelectual de leve a moderada y trastornos neuropsiquiátricos (problemas de comportamiento, ansiedad, trastorno de déficit de atención con hiperactividad, trastorno del espectro autista, trastorno bipolar). También se asocian frecuentemente anomalías cardiovasculares estructurales (dilatación de la raíz aórtica, válvula aórtica bicomisural, defectos auriculares / ventriculares y septales) y trastornos del sueño (apnea obstructiva y central del sueño)."},"it":{"name":"Sindrome da microduplicazione 17p11.2","synonyms":["Sindrome di Potocki-Lupski","Trisomia 17p11.2"],"definition":"La sindrome da microduplicazione 17p11.2 è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio corto del cromosoma 17; di solito è caratterizzata da ipotonia, difficoltà di alimentazione, ritardo della crescita, ritardo dello sviluppo (in particolare deficit cognitivo e del linguaggio), deficit intellettivo lieve-moderato e disturbi neuropsichiatrici (problemi comportamentali, ansia, disturbo da deficit di attenzione/iperattività, disturbo dello spettro autistico, bipolarismo). Spesso si associano difetti cardiovascolari strutturali (dilatazione della radice aortica, valvola aortica bicuspide e difetti atriali/ventricolari e del setto) e disturbi del sonno (apnea ostruttiva e apnea centrale durante il sonno)."},"nl":{"name":"17p11.2-microduplicatiesyndroom","synonyms":["Syndroom van Potocki-Lupski","Trisomie 17p11.2"],"definition":"Een zeldzaam syndroom met een chromosomale anomalie als gevolg van partiële duplicatie van de korte arm van chromosoom 17, doorgaans gekarakteriseerd door hypotonie, weinig eten, groeifalen, ontwikkelingsachterstand (vooral cognitieve functiestoornissen en taalbeperkingen), milde tot matige intellectuele achterstand, en neuropsychiatrische stoornissen (gedragsproblemen, angst, aandachtsstoornis met hyperactiviteit, autismespectrumstoornis, bipolaire stoornis). Structurele cardiovasculaire anomalieën (dilatatie van aortawortel, bicuspide aortaklep, atriale/ventriculaire en septumdefecten) en slaapstoornis (obstructieve en centrale slaapapneu) zijn ook regelmatig geassocieerd."},"pt":{"name":"Síndrome de microduplicação 17p11.2","synonyms":["Duplicação 17p11.2","Trissomia 17p11.2"]},"pl":{"name":"Zespół mikroduplikacji 17p11.2","synonyms":["Trisomia 17p11.2","Zespół Potockiego i Lupskiego"]},"cs":{"name":"Syndrom 17p11.2 mikroduplikace","synonyms":["Potocké-Lupského syndrom","Trizomie 17p11.2","Potocki-Lupského syndrom"]},"uk":{"name":"Синдром мікродуплікації 17p11.2","synonyms":["Синдром Потоцького-Лупського","Трисомія 17p11.2"],"definition":"17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated."},"zh":{"name":"17p11.2 微重复综合征","synonyms":["Potocki-Lupski综合征"]},"tr":{"name":"17p11.2 mikroduplikasyon sendromu","synonyms":["Trizomi 17p11.2","Potocki-Lupski sendromu"]}},"xrefs":[{"source":"OMIM","code":"610883","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.G1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1720095972"},{"source":"MONDO","code":"0012574","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931246","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10145","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":262803,"name":"Partial duplication of the short arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"RAI1","name":"retinoic acid induced 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20188345[PMID]","hgnc":"9834","ensembl":"ENSG00000108557","omim":"607642","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":170.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}