{"orpha":261483,"name":"Xq27.3q28 duplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(X)(q27.3q28)","Trisomy Xq27.3-q28","Trisomy Xq27.3q28","Xq27.3-q28 microduplication syndrome"],"definition":"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261483/","orphanet_url":"https://www.orpha.net/en/disease/detail/261483","names":{"fr":{"name":"Syndrome de duplication Xq27.3q28","synonyms":["Dup(X)(q27.3q28)","Syndrome de microduplication Xq27.3-q28","Trisomie Xq27.3-q28","Trisomie Xq27.3q28"],"definition":"Le syndrome de duplication Xq27.3q28, récemment décrit, se caractérise par une petite taille, un hypogonadisme, un retard du développement et une dysmorphie faciale."},"de":{"name":"Xq27.3q28-Duplikations-Syndrom","synonyms":["Del(X)(q27.3q28)","Dup(X)(q27.3q28)","Trisomie Xq27.3-q28"],"definition":"Das kürzlich beschriebene Xq27.3q28-Duplikations-Syndrom ist gekennzeichnet durch Kleinwuchs, Hypogonadismus, verzögerte Entwicklung und faziale Dysmorphien."},"es":{"name":"Síndrome de duplicación Xq27.3q28","synonyms":["Dup(X)(q27.3q28)","Síndrome de microduplicación Xq27.3-q28","Trisomía Xq27.3-q28","Trisomía Xq27.3q28"],"definition":"El síndrome de duplicación Xq27.3q28 es un síndrome descrito recientemente caracterizado por: talla baja, hipogonadismo, retraso psicomotor y dismorfia facial."},"it":{"name":"Sindrome da duplicazione Xq27.3q28","synonyms":["Dup(X)(q27.3q28)","Sindrome da microduplicazione Xq27.3-q28","Trisomia Xq27.3-q28","Trisomia Xq27.3q28"]},"nl":{"name":"Xq27.3q28-duplicatiesyndroom","synonyms":["Dup(X)(q27.3q28)","Trisomie Xq27.3-q28","Trisomie Xq27.3q28","Xq27.3-q28-microduplicatiesyndroom"],"definition":"Een syndroom, gekenmerkt door kleine gestalte, hypogonadisme, ontwikkelingsachterstand, en faciale dysmorfie."},"pt":{"name":"Síndrome de duplicação Xq27.3q28","synonyms":["Trissomia Xq27.3q28"],"definition":"A síndrome de duplicação Xq27.3q28 é uma síndrome recentemente descrita, caracterizada por baixa estatura, hipogonadismo, atraso no desenvolvimento e dismorfia facial."},"pl":{"name":"Zespół duplikacji Xq27.3q28","synonyms":["Dup(X)(q27.3q28)","Trisomia Xq27.3q28","Trisomia Xq27.3-q28","Zespół mikroduplikacji Xq27.3-q28"]},"cs":{"name":"Syndrom duplikace Xq27.3q28","synonyms":["Dup(X)(q27.3q28)","Trizomie Xq27.3-q28","Trizomie Xq27.3q28","Xq27.3-q28 mikroduplikační syndrom"]},"uk":{"name":"Синдром дуплікації Xq27.3q28","synonyms":["Dup(X)(q27.3q28)","Трисомія Xq27.3q28","Трисомія Xq27.3-q28","Синдром мікродуплікації Xq27.3-q28"],"definition":"Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism."},"zh":{"name":"Xq27.3q28重复综合征","synonyms":["Xq27.3-q28微重复综合征"],"definition":"Xq27.3q28重复综合征是新近发现的一种以身材矮小、性腺机能减退、发育迟缓和面部畸形为特征的综合征。"},"tr":{"name":"Xq27.3q28 duplikasyon sendromu","synonyms":["Dup (X) (q27.3q28)","Trizomi Xq27.3q28","Trizomi Xq27.3-q28","Xq27.3-q28 mikroduplikasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"300869","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1570315224"},{"source":"MONDO","code":"0010467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305103","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3423,"name":"Vasquez-Hurst-Sotos syndrome","status":"inactive"}],"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]}],"children":[],"genes":[{"symbol":"FMR1","name":"fragile X messenger ribonucleoprotein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19844254[PMID]","hgnc":"3775","ensembl":"ENSG00000102081","omim":"309550","loci":["Xq27.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"19844254[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":"2016-06-01","source":"19844254[PMID]","terms":[{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","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:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null}]}}