{"orpha":3376,"name":"Triploidy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3376/","orphanet_url":"https://www.orpha.net/en/disease/detail/3376","names":{"fr":{"name":"Syndrome de triploïdie","definition":"Anomalie chromosomique rare, polyploïdie, caractérisée par un retard précoce de croissance in utero et de multiples malformations congénitales, notamment des anomalies du tube neural, des anomalies faciales, une fente labiale et palatine, des anomalies cardiaques congénitales, des malformations génitales et des anomalies du squelette périphérique. La maladie est généralement létale avant la naissance."},"de":{"name":"Triploidie"},"es":{"name":"Síndrome de triploidía","definition":"La triploidía es una anomalía cromosómica poco frecuente, caracterizada por restricción temprana del crecimiento intrauterino y múltiples defectos congénitos que incluyen, defectos del tubo neural, anomalías faciales, labio / paladar hendidos, anomalías cardíacas congénitas, malformaciones genitales y anomalías esqueléticas periféricas. Suele ser letal en el periodo prenatal o neonatal inmediato."},"it":{"name":"Sindrome triploidia","definition":"La triploidia è un'anomalia cromosomica rara, che rientra nelle poliploidie, caratterizzata da ritardo precoce della crescita prenatale e difetti congeniti multipli, che comprendono i difetti del tubo neurale, i dismorfismi facciali, la labio/palatoschisi, le cardiopatie congenite, le malformazioni dei genitali e le anomalie scheletriche. Di solito è letale in epoca prenatale."},"nl":{"name":"Triploïdiesyndroom","definition":"Triploïdie is een zeldzame chromosomale anomalie en polyploïdie, en wordt gekarakteriseerd door vroege groeirestrictie <i>in utero</i> en meervoudige geboortedefecten waaronder neuralebuisdefecten, gelaatsafwijkingen, gespleten lip/verhemelte, congenitale hartanomalieën, genitale malformaties, en perifere skeletanomalieën. Het is meestal prenataal letaal."},"pt":{"name":"Triploidia"},"pl":{"name":"Zespół triploidii"},"cs":{"name":"Triploidie"},"uk":{"name":"Триплоїдія","definition":"Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal."},"zh":{"name":"三倍体"},"tr":{"name":"Triploidi"}},"xrefs":[{"source":"ICD-10","code":"Q92.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD42.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1900317965"},{"source":"MONDO","code":"0018067","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D057885","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0333693","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5295","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":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":96321,"name":"Polyploidy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.6,"area":"Europe","status":"Validated","source":"22234154[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"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:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","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:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005264","label":"Abnormality of the gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null}]}}