{"orpha":1715,"name":"Trisomy 18p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 18p","Duplication of the short arm of chromosome 18","Trisomy of the short arm of chromosome 18"],"definition":"A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1715/","orphanet_url":"https://www.orpha.net/en/disease/detail/1715","names":{"fr":{"name":"Syndrome de trisomie 18p","synonyms":["Duplication 18p","Trisomie du bras court du chromosome 18p"],"definition":"Trisomie partielle rare du bras court du chromosome 18 caractérisée par un phénotype clinique très variable pouvant inclure, entre autres, un retard de développement et une déficience intellectuelle variables, une épilepsie et une dysmorphie non spécifique."},"de":{"name":"Duplikation 18p","synonyms":["Trisomie 18p"],"definition":"Eine seltene partielle Trisomie des kurzen Arms von Chromosom 18, die sich mit einem sehr variablen klinischen Phänotyp manifestiert, der unter anderem variable Entwicklungsverzögerungen und Intelligenzminderung, Epilepsie und unspezifische dysmorphe Merkmale umfassen kann."},"es":{"name":"Síndrome de trisomía 18p","synonyms":["Duplicación 18p","Duplicación del brazo corto del cromosoma 18","Trisomía del brazo corto del cromosoma 18"],"definition":"Es una trisomía parcial poco frecuente del brazo corto del cromosoma 18 que se manifiesta con un fenotipo clínico altamente variable que puede incluir diversos grados de retraso psicomotor y discapacidad intelectual, epilepsia y rasgos dismórficos inespecíficos, entre otras."},"it":{"name":"Sindrome trisomia 18p","synonyms":["Duplicazione 18p","Trisomia del braccio corto del cromosoma 18","Duplicazione del braccio corto del cromosoma 18"],"definition":"Si tratta di una trisomia parziale rara del braccio corto del cromosoma 18, che si manifesta con un fenotipo clinico molto variabile, che comprende il ritardo dello sviluppo e la disabilità intellettiva di grado variabile, l'epilessia e i dismorfismi aspecifici."},"nl":{"name":"Trisomie 18p-syndroom","synonyms":["Duplicatie 18p","Korte arm van chromosoom 18 duplicatie","Korte arm van chromosoom 18 trisomie"],"definition":"Een zeldzame partiele trisomie van de korte arm van chromosoom 18 die zich manifesteert met een zeer variabel klinisch fenotype, met onder meer variabele ontwikkelingsachterstand en intellectuele achterstand, epilepsie, en aspecifieke dysmorfe kenmerken."},"pt":{"name":"Trissomia 18p","synonyms":["Duplicação 18p"]},"pl":{"name":"Zespół trisomii 18p","synonyms":["Duplikacja 18p","Duplikacja krótkiego ramienia chromosomu 19","Trisomia krótkiego ramienia chromosomu 18"],"definition":"Rzadka częściowa trisomia krótkiego ramienia chromosomu 18 objawiająca się bardzo zmiennym fenotypem klinicznym, który może obejmować między innymi zmienne opóźnienie rozwoju i niepełnosprawność intelektualną, padaczkę oraz nieswoiste cechy dysmorficzne."},"cs":{"name":"Trizomie 18p","synonyms":["Duplikace 18p","Duplikace krátkého raménka chromozomu 18","Trizomie krátkého raménka chromozomu 18"]},"uk":{"name":"Трисомія 18р","synonyms":["Дуплікація 18р","Дуплікація короткого плеча хромосоми 18","Трисомія короткого плеча хромосоми 18"],"definition":"A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others."},"zh":{"name":"18号染色体短臂三体","synonyms":["18号染色体短臂重复"]},"tr":{"name":"Trizomi 18p","synonyms":["Duplikasyon 18p","18. kromozomun kısa kolunun trizomisi","18. kromozomun kısa kolunun duplikasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.H1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"362808329"},{"source":"MONDO","code":"0015740","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538307","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931811","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5323","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262812,"name":"Partial duplication/triplication of the short arm of chromosome 18 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"26042156[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26042156[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-02-08","source":"487637[PMID]_7485173[PMID]_8779322[PMID]_17330860[PMID]_5663940[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}