{"orpha":521258,"name":"Xq25 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(X)(q25)","Xq25 microtriplication"],"definition":"A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521258/","orphanet_url":"https://www.orpha.net/en/disease/detail/521258","names":{"fr":{"name":"Syndrome de microduplication Xq25","synonyms":["Dup(X)(q25)","Microtriplication Xq25"],"definition":"Anomalies congénitales multiples, liées à l'X/syndrome dysmorphique rare avec déficience intellectuelle, caractérisé par un retard de développement, une déficience intellectuelle légère à modérée, des troubles du langage, des troubles du comportement (tels que l'anxiété, l'hyperactivité et l'agressivité) et une légère dysmorphie faciale (y compris une hypotonie faciale, des sourcils fins et arqués, un ectropion, un épicanthus, un aplatissement de l'os malaire, un vermillon épais et une prognathie). Les autres signes cliniques variables comprennent une petite taille, des malformations squelettiques et génitales, des crises convulsives et des troubles du spectre autistique. L'IRM peut révéler une hypoplasie du vermis cérébelleux, un corps calleux court et des espaces sous-arachnoïdiens élargis."},"de":{"name":"Mikroduplikationssyndrom Xq25","synonyms":["Dup(X)(q25q25)","Mikrotriplikation Xq25"],"definition":"Ein X-chromosomal vererbtes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien und Intelligenzminderung. Es ist gekennzeichnet durch Entwicklungsverzögerung, leichte bis mäßige Intelligenzminderung, Sprachstörungen, Verhaltensauffälligkeiten (z. B. Ängstlichkeit, Hyperaktivität und Aggressivität) und leichte Gesichtsdysmorphien (z. B. Hypotonie des Gesichts, dünne, gewölbte Augenbrauen, Ektropium, Epikanthus, malerische Abflachung, dicke Lippen und Prognathie). Weitere variable Manifestationen sind Kleinwuchs, Skelett- und Genitalanomalien, epileptische Anfälle und Autismus-Spektrum-Störungen. Die zerebrale Bildgebung kann eine Hypoplasie des Kleinhirnwurms, ein dünnes Corpus callosum und vergrößerte Subarachnoidalräume zeigen."},"es":{"name":"Síndrome de microduplicación Xq25","synonyms":["Dup(X)(q25)","Microtriplicación Xq25"],"definition":"Es un síndrome dismórfico/de anomalías congénitas múltiples con discapacidad intelectual poco frecuente, ligado al cromosoma X, caracterizado por un retraso psicomotor, discapacidad intelectual de leve a moderada, trastornos del habla y de la conducta (tales como ansiedad, hiperactividad y agresividad) y leve dismorfia facial (incluyendo hipotonía facial, cejas finas arqueadas, ectropion, epicanto, región malar plana, bermellón de los labios grueso y prognatia). Otras manifestaciones variables adicionales incluyen talla baja, anomalías esqueléticas y genitales, crisis epilépticas y trastornos del espectro autista. La neuroimagen puede revelar hipoplasia del vermis cerebeloso, un adelgazamiento del cuerpo calloso y dilatación del espacio subaracnoideo."},"it":{"name":"Sindrome da microduplicazione Xq25","synonyms":["Dup(X)(q25)","Microtriplicazione Xq25"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli e disabilità intellettiva, caratterizzata da ritardo dello sviluppo, disabilità intellettiva lieve-moderata, disturbi del linguaggio, problemi comportamentali (ansia, iperattività e aggressività) e dismorfismi facciali sfumati (ipotonia facciale, sopracciglia sottili e arcuate, ectropion, epicanto, appiattimento della regione malare, porzione mucosa del labbro spessa e prognazia). Altri segni clinici variabili sono la bassa statura, le anomalie scheletriche e dei genitali, le crisi epilettiche e i disturbi dello spettro autistico. Le neuroimmagini evidenziano l'ipoplasia del verme cerebellare, l'assottigliamento del corpo calloso e l'allargamento degli spazi subaracnoidei."},"nl":{"name":"Xq25-microduplicatiesyndroom","synonyms":["Dup(X)(q25)","Xq25-microtriplicatie"],"definition":"Een zeldzaam, X-gebonden, multipele congenitale anomalieën/dysmorfe malformatie - intellectuele achterstand-syndroom, gekarakteriseerd door ontwikkelingsachterstand, milde tot matige intellectuele achterstand, spraakstoornis, gedragsproblemen (zoals angst, hyperactiviteit, en agressiviteit), en milde faciale dysmorfie (waaronder faciale hypotonie, dunne en gebogen wenkbrauwen, ectropion, epicanthus, platte jukbeenderen, dik vermiljoen van de lippen, en prognathie). Bijkomende variabele manifestaties zijn onder meer kleine gestalte, anomalieën van skelet en genitaliën, insulten, en autismespectrumstoornissen. Beeldvorming van hersenen toont mogelijk hypoplasie van cerebellaire vermis, dun corpus callosum, en vergrote subarachnoïdale ruimte."},"pt":{"name":"Síndrome de microduplicação Xq25"},"pl":{"name":"Zespół mikroduplikacji Xq25","synonyms":["Dup(X)(q25)","Mikrotriplikacja Xq25"]},"cs":{"name":"Syndrom mikroduplikace Xq25","synonyms":["Dup(X)(q25)"]},"uk":{"name":"Синдром мікродуплікації Xq25","synonyms":["Dup(X)(q25)","Мікротріплікація Xq25"],"definition":"A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces."},"zh":{"name":"染色体Xq25 微重复综合征","synonyms":["X染色体q25微三倍体重复"],"definition":"一种罕见X连锁多发性先天性异常/畸形-智力障碍综合征，其特征是发育迟缓、轻度至中度智力障碍、语言障碍、行为问题（如焦虑、多动和攻击性）和轻度面部畸形（包括面部肌张力低下、细眉弓、眼睑外翻、内眦赘皮、颧骨扁平、朱砂色唇部厚且凸出）。其他可变的表现包括身材矮小、骨骼和生殖器异常、癫痫发作和自闭症谱系障碍。脑部影像学检查可发现小脑蚓部发育不全、胼胝体薄、蛛网膜下腔扩大。"},"tr":{"name":"Xq25 mikroduplikasyon sendromu","synonyms":["Dup(X)(q25)","Xq25 Xq25 mikrotriplikasyon"]}},"xrefs":[{"source":"OMIM","code":"300979","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010507","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5447842","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":263783,"name":"Partial duplication of the long arm of chromosome X syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"STAG2","name":"STAG2 cohesin complex component","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25677961[PMID]_26443594[PMID]","hgnc":"11355","ensembl":"ENSG00000101972","omim":"300826","loci":["Xq25"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"26443594[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26443594[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-29","source":"16840569[PMID]_23637084[PMID]","terms":[{"hpo":"HP:0008050","label":"Abnormality of the palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}