{"orpha":284180,"name":"Xp22.13p22.2 duplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplication Xp22"],"definition":"A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284180/","orphanet_url":"https://www.orpha.net/en/disease/detail/284180","names":{"fr":{"name":"Syndrome de duplication Xp22.13p22.2","synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplication Xp22"],"definition":"Déficience intellectuelle syndromique rare caractérisée par un retard de développement et une déficience intellectuelle, des troubles de l'apprentissage et du comportement, une petite taille, des cheveux fins et clairsemés, une légère dysmorphie, des doigts effilés et l'apparition tardive d'une scoliose, d'une obésité et de problèmes cardiovasculaires (cardiomégalie et cardiomyopathie). Chez les femmes, l'intelligence n'est pas atteinte."},"de":{"name":"Xp22.13p22.2-Duplikationssyndrom","synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplikation Xp22"]},"es":{"name":"Síndrome de duplicación Xp22.13p22.2","synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplicación Xp22"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por retraso del desarrollo y discapacidad intelectual, problemas de aprendizaje y conductuales, talla baja, cabello fino y escaso, rasgos dismórficos leves, dedos cónicos y aparición tardía de escoliosis, obesidad y problemas cardiovasculares (cardiomegalia y cardiomiopatía). Las mujeres afectadas tienen inteligencia normal."},"it":{"name":"Sindrome da duplicazione Xp22.13p22.2","synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplicazione Xp22"],"definition":"La sindrome da duplicazione Xp22.13p22.2 è una disabilità intellettiva sindromica rara, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, difficoltà di apprendimento, problemi comportamentali, bassa statura, capelli sottili e radi, dismorfismi sfumati, dita affusolate e, successivamente, scoliosi, obesità e cardiopatie (cardiomegalia e cardiomiopatia). Le femmine hanno un'intelligenza normale."},"nl":{"name":"Xp22.13p22.2-duplicatiesyndroom","synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplicatie Xp22"],"definition":"Xp22.13p22.2 duplicatiesyndroom is een zeldzame, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door ontwikkelingsachterstand en intellectuele achterstand, leer- en gedragsproblemen, kleine gestalte, dun en schaars haar, milde dysmorfe kenmerken, spitse vingers en later aanvang van scoliose, obesitas en cardiovasculaire problemen (cardiomegalie en cardiomyopathie). Vrouwen hebben een normale intelligentie."},"pt":{"name":"Síndrome de microdeleção Xp22.13p22.2"},"pl":{"name":"Zespół duplikacji Xp22.13p22.2","synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplikacja Xp22"]},"cs":{"name":"Mikroduplikační syndrom Xp22.13p22.2","synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplikace Xp22"]},"uk":{"name":"Синдром дуплікації Xp22.13p22.2","synonyms":["Dup(X)(p22)","Dup(X)(p22.13p22.2)","Дуплікація Xp22"],"definition":"A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence."},"zh":{"name":"Xp22.13p22.2重复综合征","synonyms":["Xp22.13p22.2重复"],"definition":"Xp22.13p22.2重复综合征是一种罕见的综合征性智力残疾，其特征是发育迟缓和智力残疾，学习和行为问题，身材矮小，头发稀疏，轻度面部畸形，手指变细，晚发性脊柱侧弯，肥胖和心血管疾病（心脏扩大和心肌病）。女性智力正常。"},"tr":{"name":"Xp22.13p22.2 duplikasyon sendromu","synonyms":["Dup(X)(p22)","Duplikasyon Xp22","Dup(X)(p22.13p22.2)"]}},"xrefs":[{"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":"1026151133"},{"source":"MONDO","code":"0017284","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190686","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":263775,"name":"Partial duplication of the short arm of chromosome X syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-12-16","source":"21684358[PMID]","terms":[{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000454","label":"Flared nostrils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007164","label":"Slowed slurred speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}