{"orpha":313781,"name":"20p13 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["20p subtelomeric deletion syndrome","Del(20)(p13)","Monosomy 20p13"],"definition":"20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313781/","orphanet_url":"https://www.orpha.net/en/disease/detail/313781","names":{"fr":{"name":"Syndrome de microdélétion 20p13","synonyms":["Del(20)(p13)","Monosomie 20p13","Syndrome de délétion subtélomérique 20p"],"definition":"Anomalie chromosomique rare caractérisée par un retard de développement, une déficience intellectuelle légère à modérée, une épilepsie et une dysmorphie non spécifique. Un palais arqué, un retard dans l'éruption des dents permanentes, une hypoplasie des ongles, une clinodactylie et des doigts courts ont également été décrits."},"de":{"name":"Mikrodeletionssyndrom 20p13","synonyms":["Del(20)(p13)","Monosomie 20p13","Subtelomere 20p-Deletion"]},"es":{"name":"Síndrome de microdeleción 20p13","synonyms":["Del(20)(p13)","Monosomía 20p13","Síndrome de deleción subtelomérica 20p"],"definition":"El síndrome de microdeleción 20p13 es una anomalía cromosómica poco frecuente caracterizada por retraso del desarrollo, discapacidad intelectual de leve a moderada, epilepsia y signos dismórficos inespecíficos. También se ha descrito la presencia de paladar alto, retraso en la erupción de la dentición permanente, uñas hipoplásicas, clinodactilia y dedos cortos."},"it":{"name":"Sindrome da microdelezione 20p13","synonyms":["Del(20)(p13)","Monosomia 20p13","Sindrome da delezione 20p subtelomerica"],"definition":"La sindrome da microdelezione 20p13 è un'anomalia cromosomica rara caratterizzata da ritardo dello sviluppo, disabilità intellettiva lieve-moderata, epilessia e dismorfismi aspecifici. Possono associarsi il palato ogivale, il ritardo nell'eruzione dei denti permanenti, l'ipoplasia"},"nl":{"name":"20p13-microdeletiesyndroom","synonyms":["20p subtelomerische deletie-syndroom","Del(20)(p13)","Monosomie 20p13"],"definition":"20p13 microdeletiesyndroom is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door ontwikkelingsachterstand, milde tot matige intellectuele achterstand, epilepsie, en niet-specifieke dysmorfe tekenen. Hoog verhemelte, vertraagde eruptie van volwassen tanden, hypoplastische vingernagels, clinodactylie en korte vingers werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de microdeleção 20p13","synonyms":["Del(20)(p13)","Monossomia 20p13","Síndrome de deleção subtelomerica 20p"]},"pl":{"name":"Zespół mikrodelecji 20p13","synonyms":["Del(20)(p13)","Monosomia 20p13","Zespół subtelomerowej delecji 20p"],"definition":"*Zespół mikrodelecji 20p13 jest rzadką aberracją chromosomową, która charakteryzuje się opóźnieniem rozwoju, łagodną lub umiarkowaną niepełnosprawnością intelektualną, padaczką i niespecyficznymi cechami dysmorfii. Ponadto opisywano wysokie podniebienia, opóźnione wyrzynanie zębów stałych, niedorozwój paznokci, klinodaktylię i skrócenie palców."},"cs":{"name":"Mikrodeleční syndrom 20p13","synonyms":["Syndrom subtelomerické delece 20p","Del(20)(p13)","Monozomie 20p13"]},"uk":{"name":"Синдром мікроделеції 20p13","synonyms":["Синдром субтеломерної делеції 20p","Del(20)(p13)","Моносомія 20p13"],"definition":"20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported."},"zh":{"name":"20p13微缺失综合征","synonyms":["20p末端着丝粒缺失综合征"],"definition":"20p13微缺失综合征是一种罕见的染色体异常，其特征是发育迟缓、轻度至中度智障、癫痫和非特异性畸形体征。高腭，恒牙萌出延迟，指甲发育不良，弯指和短指也有报道。"},"tr":{"name":"20p13 mikrodelesyon sendromu","synonyms":["Del(20)(p13)","Monozomi 20p13","20p subtelomerik delesyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750789","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":261992,"name":"Partial deletion of the short arm of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22274139[PMID]_23165892[PMID]"},{"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":"2019-10-08","source":"31087544[PMID]","terms":[{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008589","label":"Hypoplastic helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null}]}}