{"orpha":293939,"name":"Distal Xq28 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal dup(X)q(28)","Distal trisomy Xq28","Int22h1/Int22h2 mediated-Xq28 microduplication syndrome"],"definition":"A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293939/","orphanet_url":"https://www.orpha.net/en/disease/detail/293939","names":{"fr":{"name":"Syndrome de microduplication Xq28 distale","synonyms":["Dup(X)q(28) distale","Syndrome de microduplication Xq28 à médiation Int22h1/Int22h2","Trisomie Xq28 distale"],"definition":"Déficience intellectuelle rare, syndromique, liée à l'X, caractérisée par un trouble cognitif, des troubles comportementaux et psychiatriques, une obésité, des infections récurrentes, des maladies atopiques et une dysmorphie faciale caractéristique chez les hommes. Les femmes sont asymptomatiques ou légèrement atteintes, présentant quelques difficultés d'apprentissage et une dysmorphie faciale."},"de":{"name":"Mikroduplikationssyndrom Xq28, distal","synonyms":["Dup(X)q(28), distal","Int22h1/Int22h2-vermitteltes Mikroduplikationssyndrom Xq28","Trisomie Xq28, distale"],"definition":"Eine seltene syndromale Form der Intelligenzminderung, die durch kognitive Beeinträchtigungen, Verhaltensstörungen und psychiatrische Probleme, Adipositas, rezidivierende Infektionen, atopische Erkrankungen und charakteristische Gesichtszüge bei Männern gekennzeichnet ist. Frauen sind klinisch asymptomatisch oder nur leicht betroffen und zeigen leichte Lernschwierigkeiten und Gesichtsdysmorphien."},"es":{"name":"Síndrome de microduplicación Xq28 terminal","synonyms":["Dup(X)q(28) terminal","Síndrome de microduplicación Xq28 mediado por Int22h1/Int22h2","Trisomía terminal Xq29"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente y ligada al cromosoma X, caracterizada por afectación cognitiva, problemas conductuales y psiquiátricos, obesidad, infecciones recurrentes, enfermedades atópicas y rasgos faciales característicos en varones. Las mujeres son clínicamente asintomáticas o están ligeramente afectadas, presentando leves dificultades de aprendizaje y dismorfia facial."},"it":{"name":"Sindrome da microduplicazione Xq28 distale","synonyms":["Dup(X)q(28) distale","Sindrome da microduplicazione Xq28 mediata da Int22h1/Int22h2","Trisomia Xq28 distale"],"definition":"Si tratta di una disabilità intellettiva sindromica rara legata all'X, caratterizzata da deterioramento cognitivo, anomalie comportamentali e psichiatriche, obesità, infezioni ricorrenti, malattie atopiche e dismorfismi facciali caratteristici nei maschi. Dal punto di vista clinico, le femmine sono asintomatiche oppure presentano una forma lieve della malattia con difficoltà di apprendimento e dismorfismi facciali di scarsa entità."},"nl":{"name":"Distale Xq28-microduplicatiesyndroom","synonyms":["Distale Dup(X)q(28)","Distale trisomie Xq28","Int22h1/Int22h2-gemedieerde Xq28-microduplicatiesyndroom"],"definition":"Een zeldzame syndromale X-gebonden intellectuele achterstand, gekarakteriseerd door cognitieve functiestoornis, gedragsproblemen en psychiatrische problemen, obesitas, recidiverende infecties, atopische ziekten, en typische gelaatskenmerken bij mannen. Vrouwen zijn klinisch asymptomatisch of worden mild getroffen met milde leermoeilijkheden en faciale dysmorfie."},"pt":{"name":"Síndrome de microduplicação distal Xq28","synonyms":["Trissomia distal Xq28"]},"pl":{"name":"Zespół mikroduplikacji dystalnej Xq28","synonyms":["Dystalna dup(X)q(28)","Trisomia dystalna Xq28"],"definition":"*Zespół mikroduplikacji dystalnej Xq28 jest rzadkim, dziedzicznym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się upośledzeniem funkcji poznawczych, problemami behawioralnymi i psychiatrycznymi, nawracającymi infekcjami, chorobami atopowymi i charakterystycznymi cechami twarzy u mężczyzn. Kobiety nie wykazują objawów klinicznych lub choroba ma u nich przebieg łagodny, wyrażający się niewielkimi trudnościami w nauce i dysmorfią twarzy."},"cs":{"name":"Distální mikroduplikační syndrom Xq28","synonyms":["Distální dup(X)q(28)","Distální trizomie Xq28"]},"uk":{"name":"Синдром дистальної мікродуплікації Xq28","synonyms":["Дистальна dup(X)q(28)","Дистальна трисомія Xq28","Синдром мікродуплікації Xq28, опосередкований Int22h1/Int22h2"],"definition":"A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism."},"zh":{"name":"Xq28远端微重复综合征","synonyms":["Xq28远端三体"],"definition":"Xq28远端微重复综合征是一种罕见的遗传性综合征性智力障碍，其特征是男性认知障碍、行为和精神问题、复发性感染、特应性疾病和特殊面容。女性常无临床症状或轻度受累，表现为轻度学习困难和面部畸形。"},"tr":{"name":"Distal Xq28 mikroduplikasyon sendromu","synonyms":["Distal dup(X)q(28)","Distal triszomi Xq28"]}},"xrefs":[{"source":"OMIM","code":"300815","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017404","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751127","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263783,"name":"Partial duplication of the long arm of chromosome X syndrome","classifications":[147,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"21984752[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":"2015-12-14","source":"21984752[PMID]_18047645[PMID]_20004760[PMID]","terms":[{"hpo":"HP:0011730","label":"Abnormality of central sensory function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011234","label":"Absent antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000200","label":"Short lingual frenulum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012172","label":"Stereotypical body rocking","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012724","label":"Upper eyelid edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003550","label":"Predominantly lower limb lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012169","label":"Self-biting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}