{"orpha":1745,"name":"Distal duplication 6p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal trisomy 6p","Telomeric duplication 6p","Trisomy 6pter"],"definition":"Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1745/","orphanet_url":"https://www.orpha.net/en/disease/detail/1745","names":{"fr":{"name":"Syndrome de duplication distale 6p","synonyms":["Duplication 6pter","Duplication télomérique 6p","Trisomie 6pter","Trisomie distale 6p"],"definition":"La trisomie distale du bras court du chromosome 6 est caractérisée par un retard de croissance pré- et postnatal, un ensemble d'anomalies du visage spécifiques (principalement des yeux), une microcéphalie, et un retard de développement."},"de":{"name":"Distale Duplikation 6p","synonyms":["Distale Trisomie 6p","Telomere Duplikation 6p","Trisomie 6pter"],"definition":"Die distale Trisomie des kurzen Armes von Chromosom 6 ist gekennzeichnet durch prä- und postnatal verzögertes Wachstum, ein Muster spezifischer Gesichtsmerkmale (vor allem der Augen), Mikrozephalie und Entwicklungsverzögerung."},"es":{"name":"Síndrome de duplicación terminal 6p","synonyms":["Trisomía 6pter","Trisomía terminal 6p"],"definition":"La trisomía distal del brazo corto del cromosoma 6 (6p) está caracterizada por un retraso del crecimiento pre- y postnatal, un patrón de características faciales específicas (más frecuentemente oculares), microcefalia y retraso del desarrollo."},"it":{"name":"Sindrome duplicazione 6p distale","synonyms":["Trisomia distale 6p","Duplicazione 6p telomerica","Trisomia 6pter"]},"nl":{"name":"Distale duplicatie 6p-syndroom","synonyms":["Distale trisomie 6p","Telomerische duplicatie 6p","Trisomie 6pter"],"definition":"Distale trisomie van de korte arm van chromosoom 6 wordt gekenmerkt door pre- en postnatale groeiretardatie, een patroon van specifieke gelaatskenmerken (vooral van oog), microcefalie, en ontwikkelingsachterstand."},"pt":{"name":"Síndome de duplicação distal 6p","synonyms":["Duplicação telomérica 6p","Trissomia 6pter","Trissomia distal 6p"],"definition":"A trissomia distal do braço curto do cromossoma 6 é caracterizada por atraso de crescimento pré e pós-natal, um padrão de características faciais específicas (principalmente dos olhos), microcefalia e atraso no desenvolvimento."},"pl":{"name":"Zespół duplikacji dystalnej 6p","synonyms":["Dystalna duplikacja 6p","Telomerowa duplikacja 6p","Trisomia 6pter"]},"cs":{"name":"Distální trizomie 6p","synonyms":["Distální duplikace 6p","Telomerická duplikace 6p","Trizomie 6pter"]},"uk":{"name":"Дистальна дуплікація 6p","synonyms":["Дистальна трисомія 6р","Теломерна дуплікація 6p","Трисомія 6pter"],"definition":"Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay."},"zh":{"name":"6号染色体短臂远端三体","synonyms":["6号染色体短臂末端着丝粒重复"]},"tr":{"name":"Distal trizomi 6p","synonyms":["Trizomi 6pter","Distal duplikasyon 6p","Telomerik duplikasyon 6p"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"567366963"},{"source":"MONDO","code":"0015769","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262740,"name":"Partial duplication of the short arm of chromosome 6 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":null,"terms":[{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","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:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009896","label":"Abnormality of the antitragus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100818","label":"Long thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}