{"orpha":3307,"name":"Tetrasomy 18p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isochromosome 18p"],"definition":"Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3307/","orphanet_url":"https://www.orpha.net/en/disease/detail/3307","names":{"fr":{"name":"Syndrome de tétrasomie 18p","synonyms":["Isochromosome 18p"],"definition":"Anomalie rare de structure des chromosomes affectant plusieurs organes, caractérisée sur le plan clinique par des anomalies craniofaciales, un retard de développement, des troubles cognitifs, une modification du tonus musculaire, des traits de visage caractéristiques et, dans de rares cas, des malformations rénales."},"de":{"name":"Tetrasomie 18p","synonyms":["Isochromosom 18p"],"definition":"Die Tetrasomie 18p ist eine sehr seltene strukturelle Chromosomenanomalie, die mehrere Körpersysteme betrifft und klinisch durch kraniofaziale Anomalien, Entwicklungsverzögerungen, kognitive Beeinträchtigungen, Veränderungen des Muskeltonus, charakteristische Gesichtszüge und selten Nierenfehlbildungen gekennzeichnet ist."},"es":{"name":"Síndrome de tetrasomía 18p","synonyms":["Isocromosoma 18p"],"definition":"Es una anomalía cromosómica estructural muy poco frecuente que afecta a múltiples sistemas corporales. Se caracteriza clínicamente por anomalías craneofaciales, retraso del desarrollo, discapacidad cognitiva, cambios en el tono muscular, rasgos faciales distintivos y, ocasionalmente, malformaciones renales."},"it":{"name":"Sindrome tetrasomia 18p","synonyms":["Isocromosoma 18p"],"definition":"La tetrasomia 18p è un'anomalia strutturale molto rara dei cromosomi, che colpisce diversi apparati. I segni clinici comprendono le anomalie craniofacciali, il ritardo dello sviluppo, il deficit cognitivo, le alterazioni del tono muscolare, i peculiari dismorfismi facciali e, raramente, le malformazioni renali."},"nl":{"name":"Tetrasomie 18p-syndroom","synonyms":["Isochromosoom 18p"],"definition":"Tetrasomie 18p is een zeer zeldzame, structurele chromosoomafwijking die verschillende systemen van het lichaam aantast en die klinisch gekarakteriseerd wordt door craniofaciale afwijkingen, vertraagde ontwikkeling, cognitieve beperking, veranderingen van spiertonus, typische gelaatskenmerken, en zelden niermalformaties."},"pt":{"name":"Tetrassomia 18p","synonyms":["Isocromossoma 18p"]},"pl":{"name":"Zespół tetrasomii 18p","synonyms":["Izochromosom 18p"]},"cs":{"name":"Tetrazomie 18p","synonyms":["Izochromozom 18p"]},"uk":{"name":"Тетрасомія 18p","synonyms":["Ізохромосома 18p"],"definition":"Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations."},"zh":{"name":"18p等臂染色体","synonyms":["18短臂等臂染色体"]},"tr":{"name":"Tetrazomi 18p","synonyms":["İzokromozom 18p"]}},"xrefs":[{"source":"OMIM","code":"614290","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1182006735"},{"source":"MONDO","code":"0013668","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538306","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795868","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"35","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":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002571","label":"Achalasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}