{"orpha":94065,"name":"15q24 microdeletion syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Del(15)(q24)","Monosomy 15q24"],"definition":"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94065/","orphanet_url":"https://www.orpha.net/en/disease/detail/94065","names":{"fr":{"name":"Syndrome de microdélétion 15q24","synonyms":["Del(15)(q24)","Monosomie 15q24"],"definition":"Le syndrome de microdélétion 15q24 est une anomalie chromosomale rare caractérisée sur le plan cytogénétique par une délétion 1.7-6.1 Mb sur le chromosome 15q24, et sur le plan clinique par un retard de croissance pré- et postnatal, un déficit intellectuel, un faciès caractéristique et des anomalies génitales, squelettiques et digitales."},"de":{"name":"Mikrodeletionssyndrom 15q24","synonyms":["Del(15)(q24)","Monosmie 15q24"],"definition":"Das 15q24-Mikrodeletion-Syndrome ist eine seltene Chromosomenanomalie und zytogenetisch gekennzeichnet durch eine 1,7-6,1 Mb-Deletion in der Chromosomenregion 15q24. Klinische Merkmale sind prä- und postnatale Wachstumsverzögerung, intellektuelle Einschränkung, distinkte faziale Merkmale und Genital-, Skelett-und Finger-Anomalien."},"es":{"name":"Síndrome de microdeleción 15q24","synonyms":["Del(15)(q24)","Monosomía 15q24"],"definition":"El síndrome de microdeleción 15q24 es una anomalía cromosómica rara caracterizada citogenéticamente por una deleción de 1,7-6,1 Mb en el cromosoma 15q24, y clínicamente por un retraso en el crecimiento pre y postnatal, discapacidad intelectual, rasgos faciales distintivos, y anomalías genitales, esqueléticas y digitales."},"it":{"name":"Sindrome da microdelezione 15q24","synonyms":["Del(15)(q24)","Monosomia 15q24"],"definition":"La sindrome da microdelezione 15q24 è una anomalia cromosomica rara, consistente in una delezione di 1,7-6.1 Mb del cromosoma 15q24. A livello clinico presenta ritardo della crescita pre- e post-natale, deficit cognitivo, caratteristiche facciali peculiari e anomalie genitali, scheletriche e delle dita."},"nl":{"name":"15q24-microdeletiesyndroom","synonyms":["Del(15)(q24)","Monosomie 15q24"],"definition":"15q24 microdeletiesyndroom is een zeldzame chromosoomafwijking die cytogenetisch gekenmerkt is door een 1,7-6,1 Mb-deletie in chromosoom 15q24 en klinisch door pre- en postnatale groeivertraging, verstandelijke handicap, opvallende gelaatstrekken, en genitale, skeletale en digitale afwijkingen."},"pt":{"name":"Síndrome de microdeleção 15q24","definition":"A síndrome de microdeleção 15q24 é uma anomalia cromossómica rara caracterizada citogeneticamente por uma deleção de 1,7-6,1 Mb no cromossoma 15q24 e clinicamente por atraso no crescimento pré e pós-natal, défice intelectual, características faciais distintas, e anomalias genitais, esqueléticas e digitais."},"pl":{"name":"Zespół mikrodelecji 15q24","synonyms":["Del(15)(q24)","Monosomia 15q24"]},"cs":{"name":"Mikrodeleční syndrom 15q24","synonyms":["Del(15)(q24)","Monozomie 15q24"]},"uk":{"name":"Синдром мікроделеції 15q24","synonyms":["Del(15)(q24)","Моносомія 15q24"],"definition":"15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies."},"zh":{"name":"15q24微缺失综合征","synonyms":["15q25单体"],"definition":"15q24微缺失综合征是一种罕见的染色体异常，在细胞遗传学上表现为15q24染色体1.7-6.1 Mb缺失，临床上表现为产前和产后生长迟缓、智力障碍、特殊面容以及生殖器、骨骼和手指异常。"},"tr":{"name":"15q24 mikrodelesyon sendromu","synonyms":["Del (15) (q24)","Monozomi 15q24"]}},"xrefs":[{"source":"OMIM","code":"613406","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.F","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1382727392"},{"source":"MONDO","code":"0013256","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3697269","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12219","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","classifications":[147,156]},{"orpha":500163,"name":"Witteveen-Kolk syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SIN3A","name":"SIN3 transcription regulator family member A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"27399968[PMID]","hgnc":"19353","ensembl":"ENSG00000169375","omim":"607776","loci":["15q24.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"22359776[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22359776[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-11","source":"17360722[PMID]_19557438[PMID]_26925314[PMID]_22216833[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011229","label":"Broad eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001780","label":"Abnormality of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011100","label":"Intestinal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030260","label":"Microphallus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Very rare (<4-1%)","criteria":null}]}}