{"orpha":363680,"name":"2p13.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(2)(p13.2)"],"definition":"A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363680/","orphanet_url":"https://www.orpha.net/en/disease/detail/363680","names":{"fr":{"name":"Syndrome de microdélétion 2p13.2","synonyms":["Del(2)(p13.2)"],"definition":"Monosomie partielle rare des autosomes caractérisée par un retard de développement global, une déficience intellectuelle, des troubles comportementaux (trouble du spectre de l'autisme, trouble déficitaire de l'attention avec hyperactivité), une brachycéphalie et une dysmorphie faciale variable. D'autres caractéristiques associées peuvent inclure une fusion vertébrale, de légères contractures affectant les genoux et les coudes, et des difficultés à s'alimenter pendant la petite enfance."},"de":{"name":"Mikrodeletionssyndrom 2p13.2","synonyms":["Del(2)(p13.2)"]},"es":{"name":"Síndrome de microdeleción 2p13.2","synonyms":["Del(2)(p13.2)"],"definition":"Es una alteración cromosómica poco frecuente, caracterizada por retraso global del desarrollo, discapacidad intelectual, anomalías de la conducta (hiperactividad, déficit de atención y conducta autista), braquicefalia y dismorfia facial variable. Otros hallazgos asociados pueden incluir fusiones vertebrales y contracturas leves de rodillas y codos, así como dificultades en la alimentación durante la lactancia."},"it":{"name":"Sindrome da microdelezione 2p13.2","synonyms":["Del(2)(p13.2)"],"definition":"La sindrome da microdelezione 2p13.2 è una monosomia autosomica parziale rara, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, anomalie del comportamento (iperattività, deficit di attenzione e tratti autistici), brachicefalia e dismorfismi facciali variabili. Altri segni clinici comprendono le fusioni vertebrali, le contratture lievi delle ginocchia e dei gomiti, e le difficoltà di alimentazione nella prima infanzia."},"nl":{"name":"2p13.2-microdeletiesyndroom","synonyms":["Del(2)(p13.2)"],"definition":"Een zeldzame, partiële, autosomale monosomie, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, gedragsstoornissen (hyperactiviteit, aandachtstekort en autistisch gedrag), brachycefalie en variabele faciale dysmorfie. Andere mogelijk geassocieerde kenmerken zijn onder meer vertebrale fusies, milde contracturen van knieën en ellebogen, en voedingsproblemen tijdens de zuigelingentijd."},"pt":{"name":"Síndrome de microdeleção 2p13.2"},"pl":{"name":"Zespół mikrodelecji 2p13.2","synonyms":["Del(2)(p13.2)"],"definition":"*Zespół mikrodelecji 2p13.2 jest rzadką częściową monosomią autosomu, która charakteryzuje się całościowym opóźnieniem rozwoju, niepełnosprawnością intelektualną, zaburzeniami zachowania (nadpobudliwość, deficyt uwagi i zachowania autystyczne), brachycefalią (krótkogłowie) i zmienną dysmorfią twarzy. Mogą wystąpić zespolenia kręgów, łagodne przykurcze kolan i łokci oraz trudności w karmieniu w okresie niemowlęcym."},"cs":{"name":"Mikrodeleční syndrom 2p13.2","synonyms":["Del(2)(p13.2)"]},"uk":{"name":"Синдром мікроделеції 2p13.2","synonyms":["Del(2)(p13.2)"],"definition":"A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy."},"zh":{"name":"2p13.2微缺失综合征","synonyms":["2p13.2缺失"],"definition":"本病是一种罕见的部分常染色体单体疾病，以全面发育迟缓、智力残疾、行为异常(多动、注意力缺陷和自闭症行为)、短头畸形和可变性面部畸形为特征。其他相关特征包括脊椎融合，膝盖和肘部轻度挛缩，以及婴儿期喂养困难。"},"tr":{"name":"2p13.2 mikrodelesyon sendromu","synonyms":["Del(2)(p13.2)"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018207","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749460","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":261866,"name":"Partial deletion of the short arm of chromosome 2 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23837398[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}