{"orpha":1742,"name":"Trisomy 5p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 5p","Duplication of the short arm of chromosome 5","Trisomy of the short arm of chromosome 5"],"definition":"A rare chromosomal anomaly caused by the duplication of a segment of variable size of the short arm of chromosome 5, characterized by macrocephaly, intellectual disability and distinctive facial features. Other common features include talipes equinovarus, cerebral malformations and hypotonia. Congenital heart defects can sometimes occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1742/","orphanet_url":"https://www.orpha.net/en/disease/detail/1742","names":{"fr":{"name":"Syndrome de trisomie 5p","synonyms":["Duplication 5p","Trisomie du bras court du chromosome 5p"],"definition":"Anomalie chromosomique rare causée par la duplication d'un segment de taille variable du bras court du chromosome&nbsp;5 et caractérisée par une macrocéphalie, une déficience intellectuelle et une dysmorphie faciale caractéristique. D'autres signes courants sont un pied bot, des malformations cérébrales et une hypotonie. Des malformations cardiaques congénitales sont parfois présentes."},"de":{"name":"Trisomie 5p","synonyms":["Duplikation 5p"],"definition":"Eine seltene Chromosomenanomalie, die durch die Verdopplung eines Segments variabler Größe des kurzen Arms von Chromosom 5 verursacht wird und durch Makrozephalie, Intelligenzminderung und charakteristische Gesichtszüge gekennzeichnet ist. Weitere häufige Merkmale sind Klumpfüße, zerebrale Fehlbildungen und Hypotonie. Manchmal können auch angeborene Herzfehler auftreten."},"es":{"name":"Síndrome de trisomía 5p","synonyms":["Duplicación 5p","Duplicación del brazo corto del cromosoma 5","Trisomía del brazo corto del cromosoma 5"],"definition":"Es una anomalía cromosómica poco frecuente causada por la duplicación de un segmento de tamaño variable del brazo corto del cromosoma 5, y que está caracterizada por macrocefalia, discapacidad intelectual y rasgos faciales distintivos. Otras características comunes incluyen el pie equinovaro, las malformaciones cerebrales y la hipotonía. En ocasiones, pueden asociarse cardiopatías congénitas."},"it":{"name":"Sindrome trisomia 5p","synonyms":["Duplicazione 5p","Trisomia del braccio corto del cromosoma 5","Duplicazione del braccio corto del cromosoma 5"]},"nl":{"name":"Trisomie 5p-syndroom","synonyms":["Duplicatie 5p","Korte arm van chromosoom 5-trisomie"],"definition":"Een zeldzame chromosomale anomalie veroorzaakt door duplicatie van een segment met variabele omvang van de korte arm van chromosoom 5, gekenmerkt door macrocefalie, intellectuele achterstand en typische gelaatskenmerken. Overige gangbare kenmerken zijn onder meer talipes equinovarus (klompvoet), cerebrale malformaties en hypotonie. Congenitale hartdefecten kunnen soms voorkomen."},"pt":{"name":"Trissomia 5p","synonyms":["Duplicação 5p","Trissomia 5p"]},"pl":{"name":"Zespół trisomii 5p","synonyms":["Duplikacja 5p","Trisomia krótkiego ramienia chromosomu 5"]},"cs":{"name":"Trizomie 5p","synonyms":["Duplikace 5p","Duplikace krátkého raménka chromozomu 5","Trizomie krátkého raménka chromozomu 5"]},"uk":{"name":"Трисомія 5р","synonyms":["Дуплікація 5р","Дуплікація короткого плеча хромосоми 5","Трисомія короткого плеча хромосоми 5"],"definition":"Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit."},"zh":{"name":"5号染色体短臂三体","synonyms":["5号染色体短臂三体"]},"tr":{"name":"Trizomi 5p","synonyms":["Duplikasyon 5p","5. kromozomun kısa kolunun trizomisi","5. kromozomun kısa kolunun duplikasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"223988065"},{"source":"MONDO","code":"0015768","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0812464","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6093","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":93461,"name":"Chromosomal disease with overgrowth","classifications":[147,156]},{"orpha":262725,"name":"Partial duplication/triplication of the short arm of chromosome 5 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"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:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}