{"orpha":3305,"name":"Tetraploidy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3305/","orphanet_url":"https://www.orpha.net/en/disease/detail/3305","names":{"fr":{"name":"Syndrome de tétraploïdie","definition":"Anomalie chromosomique rare désignant chez un individu atteint de polyploïdie, le fait de posséder quatre copies de chaque chromosome, au lieu de deux, soit un total de 92 chromosomes dans chaque cellule. Le phénotype est grave et se caractérise par de multiples anomalies congénitales, à savoir des malformations du système nerveux central, oculaires, cardiaques, rénales et/ou génitales, ainsi que des malformations des membres. La plupart des patients présentent un retard sévère de croissance intra-utérine, une hypotonie, un retard de croissance staturo-pondérale et un retard de développement. La maladie est généralement associée à une fausse couche."},"de":{"name":"Tetraploidie"},"es":{"name":"Síndrome de tetraploidía","definition":"La tetraploidía es una anomalía cromosómica poliploide muy poco frecuente, en la que un individuo afectado presenta cuatro copias de cada cromosoma, en lugar de dos, lo que da como resultado un total de 92 cromosomas en cada célula. El fenotipo es grave con múltiples anomalías congénitas, que incluyen malformaciones del sistema nervioso central, oculares, cardíacas, renales y/o genitales, así como defectos en las extremidades. La mayoría de los afectados presenta un retraso intrauterino grave, hipotonía, fallo de medro y retraso del desarrollo. Por lo general se asocia con el aborto involuntario."},"it":{"name":"Sindrome tetraploidia","definition":"La tetraploidia è un'anomalia cromosomica molto rara, che rientra nelle poliploidie e consiste nella presenza di quattro copie di ogni cromosoma, invece di due, per un totale di 92 cromosomi in ogni cellula. Il quadro clinico è grave ed è caratterizzato da anomalie congenite multiple, che comprendono le malformazioni del sistema nervoso centrale, degli occhi, dei reni e dei genitali, le cardiopatie e i difetti degli arti. La maggior parte dei pazienti presenta grave ritardo della crescita pre- e postnatale, ipotonia e ritardo dello sviluppo. Di solito esita in un aborto."},"nl":{"name":"Tetraploïdiesyndroom","definition":"Tetraploïdie is een uiterst zeldzame chromosomale anomalie en polyploïdie, waarbij een getroffen individu vier kopijen van elk chromosoom bezit in plaats van de gebruikelijke twee, met als gevolg een totaal van 92 chromosomen in elke cel. Het fenotype is ernstig met meervoudige congenitale anomalieën, waaronder malformaties van het centrale zenuwstelsel, de ogen, het hart, de nieren, en/of de genitaliën, alsook ledemaatdefecten. De meeste patiënten vertonen ernstige intra-uteriene groeiretardatie, hypotonie, groeiachterstand en ontwikkelingsachterstand. Het is meestal geassocieerd met miskraam."},"pt":{"name":"Tetraploidia"},"pl":{"name":"Zespół tetraploidii","definition":"*Tetraploidia to niezwykle rzadka aberracja chromosomowa, poliploidia. Osoba dotknięta chorobą posiada cztery kopie każdego chromosomu zamiast dwóch, co daje w sumie 92 chromosomy w każdej komórce. Fenotyp jest ciężki z licznymi wadami wrodzonymi, w tym z wadami ośrodkowego układu nerwowego, oczu, serca, nerek i/lub narządów płciowych oraz wadami kończyn. U większości pacjentów występuje ciężkie opóźnienie wzrastania wewnątrzmacicznego, hipotonia, brak prawidłowego rozwoju i jego opóźnienie. Tetraploidia zwykle prowadzi do poronienia."},"cs":{"name":"Tetraploidie"},"uk":{"name":"Тетраплоїдія","definition":"Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage."},"zh":{"name":"四倍体"},"tr":{"name":"Tetraploidi"}},"xrefs":[{"source":"ICD-10","code":"Q92.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD42.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1705084192"},{"source":"MONDO","code":"0018026","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D057891","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0333694","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5151","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":96321,"name":"Polyploidy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"26789424[PMID]_37981762[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26789424[PMID]_37981762[PMID]_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:0004422","label":"Biparietal narrowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100720","label":"Hypoplasia of the ear cartilage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010515","label":"Aplasia/Hypoplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null}]}}