{"orpha":96121,"name":"7q11.23 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(7)(q11.23)","Trisomy 7q11.23"],"definition":"7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild to moderate intellectual disability (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96121/","orphanet_url":"https://www.orpha.net/en/disease/detail/96121","names":{"fr":{"name":"Syndrome de microduplication 7q11.23","synonyms":["Dup(7)(q11.23)","Trisomie 7q11.23"],"definition":"Le syndrome de microduplication 7q11.23 est un syndrome rare d'anomalie chromosomique résultant de la duplication partielle du bras long du chromosome 7. Il présente un phénotype très variable et se caractérise habituellement par un déficit intellectuel léger à modéré (les patients peuvent être dans la normale), des troubles de la parole (en particulier du langage expressif) et une dysmorphie crânio-faciale (brachycéphalie, tête large, sourcils droits, large pointe nasale, philtrum court, lèvre supérieure fine, asymétrie faciale). Une hypotonie, des troubles de la coordination du développement et des troubles du comportement (anxiété, troubles du déficit de l'attention avec ou sans hyperactivité, troubles oppositionnels) sont fréquemment rapportés, ainsi que diverses anomalies congénitales telles que des anomalies cardiaques, une hernie diaphragmatique, des malformations rénales et une cryptorchidie. Des anomalies neurologiques (visibles à l'imagerie par résonance magnétique) ont été rapportées."},"de":{"name":"Mikroduplikationssyndrom 7q11.23","synonyms":["Dup(7)(q11.23)","Trisomie 7q11.23"],"definition":"Das Mikroduplikationssyndrom 7q11.23 ist ein seltene chromosomale Anomalie, die aus der partiellen Duplikation des langen Arms von Chromosom 7 resultiert und durch einen hochvariablen Phänotyp gekennzeichnet ist, der sich typischerweise durch eine leichte bis mittlere intellektuelle Verzögerung (Patienten können im Normalbereich liegen), Sprachstörungen (insbesondere der expressiven Sprache) und ausgeprägte kraniofaziale Merkmale (Brachyzephalie, breite Stirn, gerade Augenbögen, breite Nasenspitze, kurzes Philtrum, dünne Oberlippe und Gesichtsasymmetrie) manifestiert. Hypotonie, Entwicklungskoordinationsstörungen, Verhaltensprobleme (wie Angstzustände, ADHS und oppositionelle Störungen) und verschiedene angeborene Anomalien wie Herzfehler, Zwerchfellhernie, Nierenfehlbildungen und Kryptorchismus werden häufig vorgestellt. Im MRT können neurologische Anomalien auffällig werden."},"es":{"name":"Síndrome de microduplicación 7q11.23","synonyms":["Dup(7)(q11.23)","Trisomía 7q11.23"],"definition":"El síndrome de microduplicación 7q11.23 es un síndrome poco frecuente de anomalías cromosómicas resultante de la duplicación parcial del brazo largo del cromosoma 7 y caracterizado por un fenotipo altamente variable que se manifiesta típicamente con leve a moderado retraso intelectual (los afectados pueden estar en un rango normal), trastornos del habla (particularmente del lenguaje expresivo), y rasgos craneofaciales distintivos (braquicefalia, frente amplia, cejas rectas, punta nasal amplia, surco nasolabial corto, labio superior delgado y asimetría facial). Con frecuencia se presenta hipotonía, trastornos del desarrollo de la coordinación, problemas conductuales (tales como ansiedad, TDAH y trastornos oposicionales) y varias anomalías congénitas, tales como defectos cardíacos, hernia diafragmática, malformaciones renales y criptorquidismo. También se han descrito anomalías neurológicas (visibles por IRM)."},"it":{"name":"Sindrome da microduplicazione 7q11.23","synonyms":["Dup(7)(q11.23)","Trisomia 7q11.23"],"definition":"La sindrome da microduplicazione 7q11.23 è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio lungo del cromosoma 7; il quadro clinico è molto variabile e di solito è caratterizzato da ritardo mentale lieve o moderato (i pazienti possono avere anche intelligenza normale), disturbi del linguaggio (soprattutto di quello espressivo) e dismorfismi cranio-facciali caratteristici (brachicefalia, fronte ampia, sopracciglia dritte, punta del naso larga, filtro corto, labbro superiore sottile e asimmetria del volto). Spesso sono presenti ipotonia, disturbi dello sviluppo della coordinazione, problemi comportamentali (ansia, ADHD e disturbi oppositivi), diverse anomalie congenite come le cardiopatie, l'ernia diaframmatica, le malformazioni renali e il criptorchidismo. Possono essere presenti anche anomalie neurologiche, evidenti alla RMN."},"nl":{"name":"7q11.23-microduplicatiesyndroom","synonyms":["Dup(7)(q11.23)","Trisomie 7q11.23"],"definition":"7q11.23 microduplicatiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van de partiële duplicatie van de lange arm van chromosoom 7 en wordt gekarakteriseerd door een zeer variabel fenotype dat zich doorgaans manifesteert met milde tot matige intellectuele achterstand (patiënten kunnen zich binnen het normale bereik bevinden), spraakstoornissen (vooral van de expressieve taal), en typische craniofaciale kenmerken (brachycefalie, breed voorhoofd, rechte wenkbrauwen, brede neuspunt, kort filtrum, dunne bovenlip en gelaatsasymmetrie). Hypotonie, dyspraxie, gedragsproblemen (zoals angst, ADHD en oppositionele stoornissen) en verscheidene congenitale anomalieën, zoals hartdefecten, diafragmatische hernia, niermalformaties en cryptorchisme zijn regelmatig aanwezig. Neurologische afwijkingen (zichtbaar op MRI) werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de microduplicação 7q11.23","synonyms":["Trissomia 7q11.23"]},"pl":{"name":"Zespół mikroduplikacji 7q11.23","synonyms":["Dup(7)(q11.23)","Trisomia 7q11.23"]},"cs":{"name":"Mikroduplikační syndrom 7q11.23","synonyms":["Dup(7)(q11.23)","Trizomie 7q11.23"]},"uk":{"name":"Синдром мікродуплікації 7q11.23","synonyms":["Dup(7)(q11.23)","Трисомія 7q11.23"],"definition":"7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported."},"zh":{"name":"7q11.23微重复综合征","synonyms":["7q11.24三体"],"definition":"7q11.23微重复综合征是一种罕见的染色体异常综合征，由7号染色体长臂部分重复引起，表型高度多变，通常表现为轻-中度智力发育迟缓（智力可在正常范围内）、言语障碍（特别是表达性语言）、特殊面容（短头畸形、宽额、直眼睫毛、宽鼻尖、短人中、上唇薄、面部不对称）。肌张力减退、发育协调障碍、行为问题（如焦虑、多动症和对立违抗障碍），以及各种先天性异常，如心脏缺陷、膈疝、肾畸形和隐睾，都是常见的。神经系统异常（核磁共振成像可见）也有报道。"},"tr":{"name":"7q11.23 mikroduplikasyon sendromu","synonyms":["Dup (7) (q11.23)","Trizomi 7q11.23"]}},"xrefs":[{"source":"OMIM","code":"609757","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.60","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1702349167"},{"source":"MONDO","code":"0012342","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4512054","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262887,"name":"Partial duplication of the long arm of chromosome 7 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":163.0,"area":"Worldwide","status":"Validated","source":"27617154[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27617154[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-16","source":"27617154[PMID]_27615053[PMID]_16236740[PMID]_25428557[PMID]_26333794[PMID]_25900101[PMID]_24722762[PMID]_18337728[PMID]_17400790[PMID]_17666889[PMID]_19249392[PMID]_NBK327268[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009929","label":"Abnormal columella morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000699","label":"Diastema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009879","label":"Simplified gyral pattern","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011333","label":"Asymmetric crying face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000753","label":"Autism with high cognitive abilities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000200","label":"Short lingual frenulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004768","label":"Sparse anterior scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012795","label":"Abnormality of the optic disc","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008655","label":"Aplasia/Hypoplasia of the fallopian tube","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008684","label":"Aplasia/hypoplasia of the uterus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030212","label":"Collectionism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}