{"orpha":261222,"name":"Distal 16p11.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Distal del(16)(p11.2)","Distal monosomy 16p11.2"],"definition":"Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261222/","orphanet_url":"https://www.orpha.net/en/disease/detail/261222","names":{"fr":{"name":"Syndrome de microdélétion 16p11.2 distale","synonyms":["Del(16)(p11.2) distale","Monosomie 16p11.2 distale"],"definition":"Le syndrome de microdélétion 16p11.2 distale est un syndrome rare d'anomalie chromosomique résultant de la délétion partielle du bras court du chromosome 16. Son phénotype est très variable et se caractérise habituellement par un retard de développement, un léger déficit intellectuel et un trouble du spectre autistique. Sont aussi fréquemment associées une macrocéphalie (apparente à partir de l'âge de deux ans), des malformations cérébrales structurales, une épilepsie, des anomalies vertébrales et une obésité."},"de":{"name":"Mikrodeletionssyndrom 16p11.2, distal","synonyms":["Distal del(16)(p11.2)","Monosomie 16p11.2, distal"],"definition":"Das distale 16p11.2-Mikrodeletionssyndrom ist eine seltene Chromosomenanomalie, die aus der teilweisen Deletion des kurzen Arms von Chromosom 16 resultiert. Der sehr variable Phänotyp ist typischerweise durch Entwicklungsverzögerung, einer leichten Intelligenzminderung und Autismus-Spektrumstörung gekennzeichnet. Makrozephalie (manifest im Alter von 2 Jahren), strukturelle Fehlbildungen des Gehirns, Epilepsie, Wirbelanomalien und Adipositas sind häufig assoziiert."},"es":{"name":"Síndrome de microdeleción terminal 16p11.2","synonyms":["Del(16)(p11.2) terminal","Monosomía terminal 16p11.2"],"definition":"El síndrome de microdeleción 16p11.2 distal es un síndrome poco frecuente de anomalías cromosómicas resultante de la deleción parcial del brazo corto del cromosoma 16 con un fenotipo altamente variable y caracterizado típicamente por un retraso del desarrollo, discapacidad intelectual leve y trastornos del espectro autista. Por lo habitual, está asociado a macrocefalia (evidente entorno a los 2 años de edad), malformaciones estructurales del cerebro, epilepsia, anomalías vertebrales y obesidad."},"it":{"name":"Sindrome da microdelezione 16p11.2 distale","synonyms":["Del(16)(p11.2) distale","Monosomia 16p11.2 distale"],"definition":"La sindrome da microdelezione 16p11.2 distale è un'anomalia cromosomica rara causata dalla delezione parziale del braccio corto del cromosoma 16; il quadro clinico è molto variabile, di solito caratterizzato da ritardo dello sviluppo, disabilità intellettiva lieve e disturbi dello spettro autistico, spesso associati a macrocefalia (che si evidenzia prima dei due anni), anomalie strutturali del cervello, epilessia, anomalie vertebrali e obesità."},"nl":{"name":"Distale 16p11.2-microdeletiesyndroom","synonyms":["Distale del(16)(p11.2)","Distale monosomie 16p11.2"],"definition":"Distale 16p11.2 microdeletiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van de partiële deletie van de korte arm van chromosoom 16 en met een zeer variabel fenotype. De ziekte wordt doorgaans gekarakteriseerd door ontwikkelingsachterstand, milde intellectuele achterstand en autismespectrumstoornis. Macrocefalie (zichtbaar tegen de leeftijd van 2 jaar), structurele hersenmisvormingen, epilepsie, vertebrale anomalieën, en obesitas zijn vaak geassocieerd."},"pt":{"name":"Síndrome de microdeleção 16p11.2","synonyms":["Monossomia distal 16p11.2"]},"pl":{"name":"Zespół mikrodelecji dystalnej 16p11.2","synonyms":["Dystalna del(16)(p11.2)","Monosomia dystalna 16p11.2"]},"cs":{"name":"Syndom distální mikrodelece 16p11.2","synonyms":["Distální del(16)(p11.2)","Distální monozomie 16p11.2"]},"uk":{"name":"Синдром дистальної мікроделеції 16p11.2","synonyms":["Дистальний del(16)(p11.2)","Дистальна моносомія 16p11.2"],"definition":"Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated."},"zh":{"name":"远端染色体16p11.2微缺失综合征","synonyms":["16p11.2远端单体"],"definition":"16p11.2远端微缺失综合征是由16号染色体短臂部分缺失引起的一种罕见的染色体异常综合征，具有高度多变的表型，以发育迟缓、轻度智能障碍和自闭症谱系障碍为典型特征。常常与巨颅畸形(2岁时明显)、结构性脑畸形、癫痫、脊椎畸形和肥胖等表现相关。"},"tr":{"name":"Distal 16p11.2 mikrodelesyon sendromu","synonyms":["Distal del (16) (p11.2)","Distal monozomi 16p11.2"]}},"xrefs":[{"source":"OMIM","code":"613444","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.G1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013267","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518824","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261956,"name":"Partial deletion of the short arm of chromosome 16 syndrome","classifications":[147,156]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"SH2B1","name":"SH2B adaptor protein 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":null,"hgnc":"30417","ensembl":"ENSG00000178188","omim":"608937","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-03-23","source":"19755429[PMID]_19966786[PMID]_19079260[PMID]_20799338[PMID]","terms":[{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000300","label":"Oval face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011351","label":"Moderate receptive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null}]}}