{"orpha":356947,"name":"3q26q27 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Del(3)(q26q27)","Monosomy 3q26q27"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 3q26q28 deletion syndrome","url":"https://raremap.alftech.space/d/ORPHA-356947/","orphanet_url":"https://www.orpha.net/en/disease/detail/356947","names":{"fr":{"name":"Syndrome de microdélétion 3q26q27","synonyms":["Del(3)(q26q27)","Monosomie 3q26q27"]},"de":{"name":"Mikrodeletionssyndrom 3q26q27","synonyms":["Del(3)(q26q27)","Monosomie 3q26q27"]},"es":{"name":"Síndrome de microdeleción 3q26q27","synonyms":["Del(3)(q26q27)","Monosomía 3q26q27"]},"it":{"name":"Sindrome da microdelezione 3q26q27","synonyms":["Del(3)(q26q27)","Monosomia 3q26-q27","Monosomia 3q26q27","Sindrome da microdelezione 3q26-q27"]},"nl":{"name":"3q26q27-microdeletiesyndroom","synonyms":["Del(3)(q26q27)","Monosomie 3q26q27"]},"pt":{"name":"Síndrome de microdeleção 3q26q27"},"pl":{"name":"Zespół mikrodelecji 3q26q27","synonyms":["Del(3)(q26q27)","Monosomia 3q26q27","Monosomia 3q26-q27","Zespół mikrodelecji 3q26-q27"]},"cs":{"name":"Mikrodeleční syndrom 3q26q27","synonyms":["Del(3)(q26q27)","Monozomie 3q26-q27","Monozomie 3q26q27","Mikrodeleční syndrom 3q26-q27"]},"uk":{"name":"Синдром мікроделеції 3q26q27","synonyms":["Del(3)(q26q27)","Моносомія 3q26q27"],"definition":"A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported."},"zh":{"name":"3q26q27微缺失综合征","synonyms":["3q26q27单体"],"definition":"3q26q27微缺失综合征是一种罕见的部分常染色体单体综合征，以新生儿低眼压、出生前和出生后生长发育不足、严重喂养困难、全面发育迟缓和智力障碍、牙齿畸形(牙萌出延迟、乳牙延迟脱落、牙齿拥挤)、反复呼吸道感染、血小板减少和面部畸形(面部轮廓平坦、眉毛内侧稀疏、皮下皱褶、鼻梁和鼻尖扁平、人中短)为特征。行为异常(ADHD，Asperger综合征)在本病中也有报道。"},"tr":{"name":"3q26q27 mikrodelesyon sendromu","synonyms":["Del(3)(q26q27)","Monozomi 3q26q27"]}},"xrefs":[{"source":"MONDO","code":"0018156","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755255","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":695611,"name":"3q27.1 microdeletion syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}