{"orpha":444051,"name":"20q11.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(20)(q11.2)","Monosomy 20q11"],"definition":"A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444051/","orphanet_url":"https://www.orpha.net/en/disease/detail/444051","names":{"fr":{"name":"Syndrome de microdélétion 20q11.2","synonyms":["Del(20)(q11.2)","Délétion 20q11.2","Monosomie 20q11.2"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par un retard psychomoteur, une hypotonie, des difficultés à s'alimenter, un retard de croissance staturo-pondérale, des malformations des mains et des pieds (clinodactylie, camptodactylie, brachydactylie, malposition des pieds) et une dysmorphie cranio-faciale. Des retards de croissance prénatale, des anomalies gastro-intestinales, cardiaques et oculaires ont été rapportés."},"de":{"name":"Mikrodeletionssyndrom 20q11.2","synonyms":["Del(20)(q11.2)","Monosomie 20q11"]},"es":{"name":"Síndrome de microdeleción 20q11.2","synonyms":["Del(20)(q11.2)","Monosomía 20q11"],"definition":"Es una discapacidad intelectual sindrómica de origen genético, poco frecuente, caracterizada por retraso psicomotor, hipotonía, dificultades de la alimentación, fallo de medro, anomalías en las manos y los pies (clinodactilia, camptodactilia, braquidactilia, malposición de los pies) y dismorfia craneofacial. También se ha descrito retraso del crecimiento prenatal, así como anomalías gastrointestinales, cardíacas y oculares."},"it":{"name":"Sindrome da microdelezione 20q11.2","synonyms":["Del(20)(q11.2)","Monosomia 20q11"],"definition":"La sindrome da microdelezione 20q11.2 è una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo psicomotorio, ipotonia, difficoltà di alimentazione, ritardo della crescita, anomalie delle mani e dei piedi (clinodattilia, camptodattilia, brachidattilia, malposizionamento dei piedi) e dismorfismi craniofacciali. I pazienti possono anche presentare ritardo della crescita prenatale ed anomalie gastrointestinali, cardiache e oculari."},"nl":{"name":"20q11.2-microdeletiesyndroom","synonyms":["Del(20)(q11.2)","Monosomie 20q11"],"definition":"Een zeldzame, genetische, syndromale intellectuele achterstand, gekarakteriseerd wordt door psychomotorische achterstand, hypotonie, voedingsproblemen, groeifalen, anomalieën van handen en voeten (clinodactylie, camptodactylie, brachydactylie, malpositie van voeten), en craniofaciale dysmorfie. Geassocieerde prenatale groeiretardatie, en gastro-intestinale, hart- en ooganomalieën werden reeds gerapporteerd."},"pt":{"name":"Síndrome de microdeleção 20q11.2"},"pl":{"name":"Zespół mikrodelecji 20q11.2","synonyms":["Del(20)(q11.2)","Monosomia 20q11"]},"cs":{"name":"Mikrodeleční syndrom 20q11.2","synonyms":["Del(20)(q11.2)","Monozomie 20q11"]},"uk":{"name":"Синдром мікроделеції 20q11.2","synonyms":["Del(20)(q11.2)","Моносомія 20q11"],"definition":"A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported."},"zh":{"name":"20q11.2微缺失综合征","synonyms":["20q11单体"],"definition":"一种罕见的遗传综合症状性智力障碍，表现为精神运动迟缓，肌张力低下，进食困难，发育迟滞，手和脚畸形（先天性指侧弯，先天性指屈曲，短指，脚异位）和颅面畸形。其他已报道的相关表型包括产前发育迟缓，胃肠道，心脏和眼睛异常。"},"tr":{"name":"20q11.2 mikrodelesyon sendromu","synonyms":["Del(20)(q11.2)","Monozomi 20q11"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018633","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680063","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":96164,"name":"OBSOLETE: Non-distal monosomy 20q","status":"inactive"}],"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":262164,"name":"Partial deletion of the long arm of chromosome 20 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"25572454[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25572454[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-26","source":"25572454[PMID]","terms":[{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002508","label":"Brainstem dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001884","label":"Talipes calcaneovalgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null}]}}