{"orpha":261229,"name":"14q11.2 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(14)(q11.2)","Trisomy 14q11.2"],"definition":"14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261229/","orphanet_url":"https://www.orpha.net/en/disease/detail/261229","names":{"fr":{"name":"Syndrome de microduplication 14q11.2","synonyms":["Dup(14)(q11.2)","Trisomie 14q11.2"],"definition":"Anomalie chromosomique rare caractérisée par un retard de développement, une déficience intellectuelle légère à sévère accompagnée de troubles de la parole et d'une épilepsie. Une dysmorphie à type d'hypo- ou d'hypertélorisme, de dysplasie des oreilles, de fentes palpébrales courtes), une microcéphalie ou une macrocéphalie, des troubles du comportement, des mouvements stéréotypés des mains, une ataxie, une hypotonie et une fente palatine peuvent s'observer par ailleurs."},"de":{"name":"Mikroduplikationssyndrom 14q11.2","synonyms":["Dup(14)(q11.2)","Trisomie 14q11.2"]},"es":{"name":"Síndrome de microduplicación 14q11.2","synonyms":["Dup(14)(q11.2)","Trisomía 14q11.2"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por retraso en el desarrollo, discapacidad intelectual de leve a grave con trastornos del habla y epilepsia. Asimismo, puede presentar características dismórficas (tales como hipo- o hipertelorismo, orejas displásicas, fisuras palpebrales cortas), micro- o macrocefalia, anomalías conductuales, movimientos estereotipados de las manos, ataxia, hipotonía y paladar hendido."},"it":{"name":"Sindrome da microduplicazione 14q11.2","synonyms":["Dup(14)(q11.2)","Trisomia 14q11.2"],"definition":"La sindrome da microduplicazione 14q11.2 è un'anomalia cromosomica rara caratterizzata da ritardo dello sviluppo, disabilità intellettiva lieve-grave, deficit del linguaggio ed epilessia. Possono associarsi alcuni dismorfismi (ad esempio ipo- o ipertelorismo, displasia delle orecchie, rime palpebrali corte), micro- o macrocefalia, anomalie del comportamento, movimenti stereotipati delle mani, atassia, ipotonia e palatoschisi."},"nl":{"name":"14q11.2-microduplicatiesyndroom","synonyms":["Dup(14)(q11.2)","Trisomie 14q11.2"],"definition":"14q11.2 microduplicatiesyndroom is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door ontwikkelingsachterstand, milde tot ernstige intellectuele achterstand met spraakstoornis en epilepsie. Bijkomend kan er ook sprake zijn van dysmorfe kenmerken (zoals hypo- of hypertelorisme, dysplastische oren, korte ooglidspleten), microcefalie of macrocefalie, gedragsafwijkingen, stereotiepe handbewegingen, ataxie, hypotonie, en gespleten verhemelte."},"pt":{"name":"Síndrome de microduplicação 14q11.2","synonyms":["Trissomia 14q11.2"]},"pl":{"name":"Zespół mikroduplikacji 14q11.2","synonyms":["Dup(14)(q11.2)","Trisomia 14q11.2"]},"cs":{"name":"Syndrom mikroduplikace 14q11.2","synonyms":["Dup(14)(q11.2)","Trizomie 14q11.2"]},"uk":{"name":"Синдром мікродуплікації 14q11.2","synonyms":["Dup(14)(q11.2)","Трисомія 14q11.2"],"definition":"14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate."},"zh":{"name":"染色体14q11.2微重复综合征","synonyms":["14q11.2三体"],"definition":"14q11.2微重复综合征是一种罕见的染色体异常，以发育迟缓、轻度至重度智能障碍、言语障碍和癫痫为特征。此外，它可能包括畸形特征(如眼距过窄或过宽，耳朵发育不良，眼裂短)，小头畸形或巨颅畸形，行为异常，刻板的手部动作，共济失调，肌张力低下，腭裂。"},"tr":{"name":"14q11.2 mikroduplikasyon sendromu","synonyms":["Dup (14) (q11.2)","Trizomi 14q11.2"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1575870188"},{"source":"MONDO","code":"0016835","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749855","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262941,"name":"Partial duplication of the long arm of chromosome 14 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"CHD8","name":"chromodomain helicase DNA binding protein 8","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"31823155[PMID]_26834018[PMID]","hgnc":"20153","ensembl":"ENSG00000100888","omim":"610528","loci":["14q11.2"]},{"symbol":"SUPT16H","name":"SPT16 homolog, facilitates chromatin remodeling subunit","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"31823155[PMID]_26834018[PMID]","hgnc":"11465","ensembl":"ENSG00000092201","omim":"605012","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"20736978[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":"2023-02-07","source":"31823155[PMID]_26834018[PMID]_17545556[PMID]_32529320[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}