{"orpha":261290,"name":"Trisomy 17p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(17p)"],"definition":"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261290/","orphanet_url":"https://www.orpha.net/en/disease/detail/261290","names":{"fr":{"name":"Syndrome de trisomie 17p","synonyms":["Dup(17p)"],"definition":"La trisomie 17p est une anomalie chromosomique rare résultant de la duplication du bras court d'un chromosome 17 et caractérisée par un retard de croissance pré et post-natal, un retard de développement, une hypotonie, des anomalies digitales, une malformation cardiaque congénitale et une dysmorphie faciale."},"de":{"name":"Trisomie 17p","synonyms":["Dup(17p)"],"definition":"Die Trisomie 17p ist eine seltene Chromosomenanomalie mit Duplikation des kurzen Armes des Chromosoms 17. Kennzeichnend sind prä- und postnatale Wachstumsretardierung, verzögerte Entwicklung, Muskelhypotonie, Fingeranomalien, angeborene Herzfehler und distinkte Merkmale des Gesichts."},"es":{"name":"Síndrome de trisomía 17p","synonyms":["Dup(17p)"],"definition":"La trisomía 17p es una anomalía cromosómica rara, resultado de la duplicación del brazo corto del cromosoma 17 y caracterizada por un retraso en el crecimiento pre- y post-natal, retraso en el desarrollo, hipotonía, anomalías digitales, defectos cardíacos congénitos, y rasgos faciales distinctivos."},"it":{"name":"Trisomia 17p","synonyms":["Dup(17p)"],"definition":"La trisomia 17p è una rara anomalia cromosomica da duplicazione del braccio corto del cromosoma 17, caratterizzata da ritardo della crescita pre- e postnatale, ritardo dello sviluppo, ipotonia, anomalie delle dita, cardiopatie congenite e facies caratteristica."},"nl":{"name":"Trisomie 17p-syndroom","synonyms":["Dup(17p)"],"definition":"Een zeldzame chromosoomafwijking door duplicatie van de korte arm van chromosoom 17, gekenmerkt door pre- en postnatale groeiretardatie, ontwikkelingsachterstand, hypotonie, afwijkingen van vingers/tenen, congenitale hartdefecten, en typische gelaatskenmerken."},"pt":{"name":"Síndrome de trissomia 17p","definition":"A trissomia 17p é uma anomalia cromossómica rara resultante da duplicação do braço curto do cromossoma 17 e caracterizada por atraso de crescimento pré e pós-natal, atraso no desenvolvimento, hipotonia, anomalias dos dedos, defeitos cardíacos congénitos e características faciais distintivas."},"pl":{"name":"Zespół trisomii 17p","synonyms":["Dup(17p)"]},"cs":{"name":"Trizomie 17p","synonyms":["Dup(17p)"]},"uk":{"name":"Трисомія 17р","synonyms":["Dup(17p)"],"definition":"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features."},"zh":{"name":"17号染色体短臂三体","synonyms":["17号染色体短臂重复"],"definition":"17p三体是一种罕见的染色体异常，由17号染色体短臂重复引起，以出生前和出生后生长迟缓、发育迟缓、肌张力低下、手指畸形、先天性心脏病和明显的面部特征为特征。"},"tr":{"name":"Trizomi 17p","synonyms":["Dup (17p)"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016840","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538048","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795865","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5318","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262803,"name":"Partial duplication of the short arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008661","label":"Urethral stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010481","label":"Urethral valve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011229","label":"Broad eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","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:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}