{"orpha":529962,"name":"17q24.2 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(17)(q24)"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529962/","orphanet_url":"https://www.orpha.net/en/disease/detail/529962","names":{"fr":{"name":"Syndrome de microdélétion 17q24.2","synonyms":["Del(17)(q24)"],"definition":"Anomalies congénitales multiples-déficience intellectuelle/syndrome dysmorphique rare, d'origine génétique, caractérisé par un retard de développement et de langage, une déficience intellectuelle, des difficultés à s'alimenter, un retard de croissance et des malformations associées, telles que des anomalies des doigts et des orteils (clinodactylie du 5e doigt, syndactylie des 2e-3e orteils), une microcéphalie, des malformations cardiaques et des anomalies des voies aériennes supérieures. La dysmorphie faciale observée se traduit par un hypertélorisme, des fentes palpébrales petites, étroites ou inclinées vers le bas, un ptosis, un épicanthus, des malformations de l'oreille, un large pont nasal, un nez bulbeux/retroussé, un philtrum court, des lèvres minces, une rétrognathie/micrognathie, un palais ogival/ bec-de-lièvre et des anomalies dentaires. Parmi les autres manifestations variables figurent les déficiences auditives et visuelles, les crises d'épilepsie, les anomalies articulaires, l'obésité et les troubles comportementaux/psychiatriques."},"de":{"name":"Mikrodeletionssyndrom 17q24.2","synonyms":["del(17)(q24)"],"definition":"Ein seltene syndromale Chromosomenanomalie mit multiplen kongenitalen Anomalien/Dysmorphien und Intelligenzminderung. Das seltene Syndrom ist gekennzeichnet durch Entwicklungs- und Sprachverzögerung, Intelligenzminderung, Fütterungsschwierigkeiten, Gedeihstörung, Wachstumsverzögerung und assoziierte Fehlbildungen wie Finger- und Zehenanomalien (z. B. Klinodaktylie des fünften Fingers, Syndaktylie von zwei oder drei Zehen), Mikrozephalie, Herzfehler und Anomalien der oberen Atemwege. Zu den beobachteten Gesichtsdysmorphien gehören Hypertelorismus, kleine, enge oder schräg abwärts verlaufende Lidspalten, Ptosis, Epikanthus, Ohrfehlbildungen, breiter Nasenrücken, Knollennase, kurzes Philtrum, dünne Lippen, Retrognathie/Mikrognathie, hochgewölbter Gaumen/Gaumenspalten und Zahnanomalien. Weitere variable Ausprägungen sind Hör- und Sehstörungen, Krampfanfälle, Gelenkanomalien, Adipositas sowie Verhaltens- und psychiatrische Störungen."},"es":{"name":"Síndrome de microdeleción 17q24.2","synonyms":["Del(17)(q24)"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas con discapacidad intelectual de origen genético y poco frecuente caracterizado por retraso psicomotor y del habla, discapacidad intelectual, dificultades en la alimentación, fallo de medro, retraso del crecimiento y malformaciones asociadas, tales como anomalías en los dedos de las manos y los pies (p.ej, clinodactilia del quinto dedo de la mano, sindactilia del segundo y tercer dedo del pie), microcefalia, defectos cardíacos y anomalías de las vías respiratorias superiores. La dismorfia facial incluye hipertelorismo, fisuras palpebrales de orientación descendente, estrechas o pequeñas, ptosis, epicanto, malformaciones del pabellón auricular, puente nasal ancho, nariz bulbosa/prominente, filtrum corto, labios finos, retrognatia/micrognatia, paladar hendido/ojival y anomalías dentales. Otras manifestaciones variables adicionales incluyen discapacidad auditiva y visual, crisis epilépticas, anomalías articulares, obesidad y trastornos psiquiátricos/de conducta."},"it":{"name":"Sindrome da microdelezione 17q24.2","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli e disabilità intellettiva, caratterizzata da ritardo dello sviluppo e del linguaggio, disabilità intellettiva, difficoltà di alimentazione, ritardo della crescita, anomalie delle dita delle mani e dei piedi (ad es. clinodattilia del quinto dito della mano, sindattilia del secondo e terzo dito del piede), microcefalia, cardiopatie e anomalie delle vie aeree superiori. I dismorfismi facciali comprendono l'ipertelorismo, le rime palpebrali piccole, strette o oblique verso il basso, la ptosi, l'epicanto, le malformazioni dell'orecchio, la sella nasale ampia, il naso globoso/prominente, il filtro corto, le labbra sottili, la retrognazia/micrognazia, il palato ogivale e la palatoschisi e le anomalie dei denti. I pazienti possono presentare anche deficit dell'udito e della vista, crisi epilettiche, anomalie delle articolazioni, obesità e disturbi comportamentali/psichiatrici."},"nl":{"name":"17q24.2-microdeletiesyndroom","synonyms":["Del(17)(q24)"],"definition":"Een zeldzaam, genetisch multipele congenitale anomalieën/dysmorfie - intellectuele achterstand-syndroom, gekarakteriseerd door ontwikkelings- en spraakachterstand, intellectuele achterstand, voedingsproblemen, niet gedijen, groeiretardatie, en geassocieerde malformaties zoals afwijkingen van vingers en tenen (i.e. clinodactylie van 5de vinger, syndactylie van tenen 2-3), microcefalie, hartdefecten, en anomalieën van bovenste luchtwegen. Geobserveerde faciale dysmorfie omvat onder meer hypertelorisme, kleine, smalle of schuin naar beneden hellende ooglidspleten, ptose, epicanthus, oormalformaties, brede neusbrug, bolle/prominente neus, kort filtrum, dunne lippen, retrognathie/micrognathie, gebogen/gespleten verhemelte, en gebitsanomalieën. Bijkomende variabele manifestaties zijn onder meer gehoorstoornis en verlies van gezichtsvermogen, insulten, gewrichtsanomalieën, obesitas, en gedragsstoornissen/psychiatrische aandoeningen."},"pt":{"name":"Síndrome de microdeleção 17q24.2","synonyms":["Del(17)(q24)"]},"pl":{"name":"Zespół mikrodelecji 17q24.2","synonyms":["Del(17)(q24)"]},"cs":{"name":"Mikrodeleční syndrom 17q24.2","synonyms":["Del(17)(q24)"]},"uk":{"name":"Синдром мікроделеції 17q24.2","synonyms":["Del(17)(q24)"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders."},"zh":{"name":"染色体17q24.2 微缺失综合征","synonyms":["染色体17q24.2缺失综合征"],"definition":"一种罕见遗传性，多种先天性异常/畸形特征--智力障碍综合征，其特征是发育和语言迟缓、智力障碍、喂养困难、发育停滞、生长迟缓，以及相关的畸形，如手指和脚趾的异常（即第5指先天性指侧弯、2-3并趾）、小头畸形、心脏缺陷和上呼吸道异常。观察到的面部畸形包括器官间距过远、小而窄的睑裂或下睑裂、上睑下垂、内眦赘皮、耳畸形、宽鼻梁、球形鼻/突出鼻、短人中、薄唇、颌后缩/小颌畸形、弓形腭/腭裂和牙齿异常。其他不同的表现包括听力和视力障碍、癫痫发作、关节异常、肥胖和行为/精神障碍。"},"tr":{"name":"17q24.2 mikrodelesyon sendromu","synonyms":["Del(17)(q24)"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035151","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680185","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":262137,"name":"Partial deletion of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"BPTF","name":"bromodomain PHD finger transcription factor","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28465847[PMID]_29696806[PMID]","hgnc":"3581","ensembl":"ENSG00000171634","omim":"601819","loci":["17q24.2"]},{"symbol":"PSMD12","name":"proteasome 26S subunit, non-ATPase 12","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28465847[PMID]_29696806[PMID]","hgnc":"9557","ensembl":"ENSG00000197170","omim":"604450","loci":["17q24.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28465847[PMID]_29696806[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"29696806[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-20","source":"22166941[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008935","label":"Generalized neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008607","label":"Progressive conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200053","label":"Hemihypotrophy of lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000362","label":"Otosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011648","label":"Patent ductus arteriosus after birth at term","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012683","label":"Pineal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Excluded (0%)","criteria":null}]}}