{"orpha":171829,"name":"6q16 microdeletion syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Del(6)(q16)","Monosomy 6q16","Prader-Willi-like syndrome due to microdeletion 6q16"],"definition":"A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171829/","orphanet_url":"https://www.orpha.net/en/disease/detail/171829","names":{"fr":{"name":"Syndrome de microdélétion 6q16","synonyms":["Del(6)(q16)","Monosomie 6q16","Syndrome de Prader-Willi-like dû à une microdélétion 6q16"],"definition":"Ce syndrome présente un phénotype similaire à celui du syndrome de Prader-Willi. Il est caractérisé par une obésité, une hyperphagie, une hypotonie, des mains et des pieds courts, des troubles de la vision et un retard de développement."},"de":{"name":"Mikrodeletionssyndrom 6q16","synonyms":["Del(6)(q16)","Monosomie 6q16","Prader-Willi-ähnliches Syndrom durch Deletion 6q16"],"definition":"Ein seltenes Prader-Willi-ähnliches Syndrom, das auf eine interstitielle Deletion an 6q16.1q16.2 zurückzuführen ist und durch Adipositas, Hyperphagie, Hypotonie, kleine Hände und Füße, Augen-/Sehstörungen und globale Entwicklungsverzögerung gekennzeichnet ist."},"es":{"name":"Síndrome de microdeleción 6q16","synonyms":["Del(6)(q16)","Monosomía 6q16","Síndrome similar a Prader-Willi por microdeleción 6q16"],"definition":"Es un síndrome similar al de Prader-Willi, poco frecuente, y que se debe a una deleción intersticial localizada en 6q16.1q16.2. Se caracteriza por obesidad, hiperfagia, hipotonía, manos y pies pequeños, anomalías oculares y de la visión, y retraso global del desarrollo."},"it":{"name":"Sindrome da delezione 6q16","synonyms":["Del(6)(q16)","Monosomia 6q16","Sindrome Prader-Willi-simile da delezione 6q16"]},"nl":{"name":"6q16-microdeletiesyndroom","synonyms":["Del(6)(q16)","Monosomie 6q16","Prader-Willi-achtig syndroom door microdeletie 6q16"],"definition":"Een zeldzaam Prader-Willi-achtig syndroom door een interstitiële deletie ter hoogte van 6q16.1q16.2, gekenmerkt door obesitas, hyperfagie, hypotonie, kleine handen en voeten, anomalieën van oog/zicht, en algehele ontwikkelingsachterstand."},"pt":{"name":"Síndrome de microdeleção 6q16"},"pl":{"name":"Zespół delecji 6q16","synonyms":["Del(6)(q16)","Monosomia 6q16","Zespół podobny do zespołu Pradera i Williego spowodowany delecją 6q16"]},"cs":{"name":"Syndrom delece 6q16","synonyms":["Del(6)(q16)","Monozomie 6q16","Prader-Willi-like syndrom způsobený delecí 6q16"]},"uk":{"name":"Синдром мікроделеції 6q16","synonyms":["Del(6)(q16)","Моносомія 6q16","Синдром Прадера-Віллі внаслідок мікроделеції 6q16"],"definition":"A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay."},"zh":{"name":"6q16微缺失综合征","synonyms":["6q16微缺失所致Prader-Willi样综合征"],"definition":"6q16微缺失综合征是一种Prader-Willi样综合征，其主要临床表现为肥胖、食欲减退、肌张力低下、小手小脚畸形、视觉障碍和全面发育迟缓。"},"tr":{"name":"6q16 mikrodelesyon sendromu","synonyms":["Del (6) (q16)","Monozomi 6q16","Mikrodelesyon 6q16 ya bağlı Prader-Willi benzeri sendrom"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD29","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"933075788"},{"source":"MONDO","code":"0015749","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5438727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262047,"name":"Partial deletion of the long arm of chromosome 6 syndrome","classifications":[147,156]},{"orpha":398073,"name":"Prader-Willi-like syndrome","classifications":[147,156,181,193,201,205]}],"children":[],"genes":[{"symbol":"SIM1","name":"SIM bHLH transcription factor 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24038875[PMID]","hgnc":"10882","ensembl":"ENSG00000112246","omim":"603128","loci":["6q16.3"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"24038875[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":"2020-10-23","source":"18925680[PMID]_20301505[PMID]_16829351[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","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:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007874","label":"Almond-shaped palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031703","label":"Abnormal ear morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}