{"orpha":574,"name":"21q deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["21q- syndrome","Partial 21q monosomy"],"definition":"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-574/","orphanet_url":"https://www.orpha.net/en/disease/detail/574","names":{"fr":{"name":"Syndrome de délétion 21q","synonyms":["Monosomie 21q partielle","Syndrome 21q"],"definition":"La monosomie 21 est une anomalie chromosomique caractérisée par une délétion partielle variable d'un segment du bras long du chromosome 21, qui mène à un risque accru de malformations congénitales, de retard de développement et de déficit intellectuel."},"de":{"name":"21q-Deletionssyndrom","synonyms":["21q-Syndrom","Monosomie 21q, partielle"],"definition":"Die Monosomie 21 ist eine Chromosomenanomalie mit Verlust unterschiedlich großer Anteile des langen Arms des Chromosoms 21 und erhöhtem Risiko für angeborene Fehlbildungen, verzögerte Entwicklung und intellektuelles Defizit."},"es":{"name":"Síndrome de deleción 21q","synonyms":["Monosomía parcial 21q","Síndrome 21q-"],"definition":"La monosomía 21 es una anomalía cromosómica caracterizada por la pérdida de porciones variables de un segmento del brazo largo del cromosoma 21 que da lugar a un mayor riesgo de defectos congénitos, retraso del desarrollo y déficit intelectual."},"it":{"name":"Sindrome da delezione 21q","synonyms":["Monosomia 21q parziale","Sindrome 21q-"],"definition":"La monosomia 21 è un'anomalia cromosomica caratterizzata dalla perdita di porzioni variabili di un segmento del braccio lungo del cromosoma 21, che comporta un rischio maggiore di sviluppare difetti congeniti, ritardo dello sviluppo e deficit cognitivo."},"nl":{"name":"21q-deletiesyndroom","synonyms":["21q-syndroom","Partiële 21q-monosomie"],"definition":"Monosomie 21 is een chromosomale afwijking gekenmerkt door het verlies van variabele delen van een segment van de lange arm van chromosoom 21 dat leidt tot een verhoogd risico op aangeboren afwijkingen, ontwikkelingsachterstand en verstandelijke beperking."},"pt":{"name":"Síndrome de deleção 21q","synonyms":["Síndrome 21q-","Monossomia parcial 21q"],"definition":"A monossomia 21 é uma anomalia cromossómica caracterizada pela perda de porções variáveis de um segmento do braço longo do cromossoma 21 que leva a um risco aumentado de anomalias congénitas, atraso do desenvolvimento e défice intelectual."},"pl":{"name":"Monosomia 21","synonyms":["Częściowa monosomia 21q","Zespół 21q","Zespół delecji 21q"]},"cs":{"name":"Monozomie 21","synonyms":["Syndrom delece 21q","Syndrom 21q-","Parciální monozomie 21q"]},"uk":{"name":"Синдром делеції 21q","synonyms":["21q-синдром","Часткова 21q моносомія"],"definition":"Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit."},"zh":{"name":"21单体","synonyms":["21号染色体长臂单体缺失综合征"]},"tr":{"name":"Monozomi 21","synonyms":["21q- sendromu","Kısmi 21q monozomi","21q delesyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q93.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.M","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"47014571"},{"source":"MONDO","code":"0018930","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537108","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795876","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10860","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":262173,"name":"Partial deletion of the long arm of chromosome 21 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-11-20","source":"22985727[PMID]_34889506[PMID]","terms":[{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002623","label":"Overriding aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}