{"orpha":508488,"name":"8q24.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(8)(q24.3)","Deletion 8q24.3","Monosomy 8q24.3"],"definition":"A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508488/","orphanet_url":"https://www.orpha.net/en/disease/detail/508488","names":{"fr":{"name":"Syndrome de microdélétion 8q24.3","synonyms":["Del(8)(q24.3)","Monosomie 8q24.3"],"definition":"Syndrome d'anomalies congénitales multiples/dysmorphie - déficience intellectuelle caractérisé par des difficultés à s'alimenter, un retard de croissance, une microcéphalie, un retard de développement, des anomalies digitales et vertébrales, une laxité/dislocation des articulations, des anomalies cardiaques et rénales et une dysmorphie faciale (notamment plagiocéphalie, front proéminent, rétrécissement bitemporal, colobome bilatéral, plis épicanthaux, malformations de l'oreille externe et moyenne, large pont nasal, narines antéversées, nez retroussé et pointe bulbeuse, long philtrum, lèvres minces, palais haut et étroit, micrognathie avec prognathisme/rétrognathisme, joues pleines et cou court et large). D'autres manifestations variables sont des apnées obstructives, des pneumonies récurrentes et des crises d'épilepsie."},"de":{"name":"Mikrodeletionssyndrom 8q24.3","synonyms":["Del(8)(q24.3)","Deletion 8q24.3","Monosomie 8q24.3"],"definition":"Ein Fehlbildungssyndrom mit multiplen angeborenen Anomalien/Dysmorphien und Intelligenzminderung. Es ist gekennzeichnet durch Fütterungsprobleme, Wachstumsverzögerung, Mikrozephalie, Entwicklungsverzögerung, digitale und vertebrale Anomalien, Gelenkdislokation, Herz- und Nierenfehlbildungen sowie dysmorphe Gesichtsmerkmale (einschließlich Plagiozephalie, prominente Stirn, bitemporale Verschmälerung, bilaterales Kolobom, Epikanthusfalten, Fehlbildungen des äußeren und mittleren Ohrs, breiter Nasenrücken, antevertierte Nasenlöcher, prominente und knollige Nasenspitze, langes Philtrum, dünne Lippen, hoher und schmaler Gaumen, Mikrognathie mit Progenie/Retrognathie, volle Wangen und kurzer, breiter Hals). Weitere variable Manifestationen sind obstruktive Apnoen, rezidivierende Lungenentzündungen und Krampfanfälle."},"es":{"name":"Síndrome de microdeleción 8q24.3","synonyms":["Del(8)(q24.3)","Deleción 8q24.3","Monosomía 8q24.3"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas con discapacidad intelectual caracterizado por problemas de alimentación, retraso del crecimiento, microcefalia, retraso psicomotor, anomalías digitales y vertebrales, laxitud/luxación articular, defectos cardíacos y renales y rasgos faciales dismórficos (incluyendo plagiocefalia, frente prominente, estrechamiento bitemporal, coloboma bilateral, pliegues epicánticos, malformaciones del oído externo y medio, puente nasal ancho, narinas antevertidas, punta nasal prominente y bulbosa, filtrum largo, labios finos, paladar ojival y estrecho, micrognatia con prognatismo/retrognatismo, mejillas llenas y cuello corto y ancho). Otras manifestaciones variables adicionales incluyen apneas obstructivas, neumonía recurrente y crisis epilépticas."},"it":{"name":"Sindrome da microdelezione 8q24.3","synonyms":["Del(8)(q24.3)","Delezione 8q24.3","Monosomia 8q24.3"],"definition":"Si tratta di una malattia da anomalie/dismorfismi congeniti multipli e disabilità intellettiva, caratterizzata da difficoltà di alimentazione, ritardo della crescita, microcefalia, ritardo dello sviluppo, anomalie delle dita e delle vertebre, lassità/dislocazione articolare, anomalie cardiache e renali e dismorfismi facciali (plagiocefalia, fronte prominente, restringimento bitemporale, coloboma bilaterale, epicanto, malformazioni dell'orecchio esterno e medio, sella nasale ampia, narici anteverse, punta del naso prominente e globosa, filtro lungo, labbra sottili, palato stretto e ogivale, micrognazia con prognatismo/retrognazia, guance paffute e collo corto e largo). I pazienti possono presentare anche apnee ostruttive, polmonite ricorrente e crisi epilettiche."},"nl":{"name":"8q24.3-microdeletiesyndroom","synonyms":["Del(8)(q24.3)","Deletie 8q24.3","Monosomie 8q24.3"],"definition":"Een multipele congenitale anomalieën/dysmorfie - intellectuele achterstand-syndroom, gekarakteriseerd door voedingsproblemen, groeiretardatie, microcefalie, ontwikkelingsachterstand, anomalieën van vingers/tenen en wervels, laxiteit/luxatie van gewrichten, hart- en nierdefecten, en dysmorfe gelaatskenmerken (waaronder plagiocefalie, prominent voorhoofd, bitemporale vernauwing, bilateraal coloboom, amandelogen, malformaties van buiten- en middenoor, brede neusbrug, anteversie van neusgaten, prominente en bolle neuspunt, lang filtrum, dunne lippen, hoog en smal verhemelte, micrognathie met prognathie/retrognathie, volle wangen, en korte en brede nek). Bijkomende variabele manifestaties zijn onder meer obstructieve apneu, recidiverende pneumonie, en insulten."},"pt":{"name":"Síndrome de microdeleção 8q24.3"},"pl":{"name":"Zespół mikrodelecji 8q24.3","synonyms":["Del(8)(q24.3)","Delecja 8q24.3","Monosomia 8q24.3","zespół Verheij"]},"cs":{"name":"Syndrom delece 8q24.3","synonyms":["Del(8)(q24.3)","Delece 8q24.3","Monozomie 8q24.3","Verheijové syndrom"]},"uk":{"name":"Синдром мікроделеції 8q24.3","synonyms":["Del(8)(q24.3)","Делеція 8q24.3","Моносомія 8q24.3","Синдром Вергея"],"definition":"A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures."},"zh":{"name":"染色体8q24.3微缺失综合征","synonyms":["Verheij综合征"],"definition":"一种多发性先天性异常/畸形-智力障碍综合征，其特征是喂养问题、生长迟缓、小头畸形、发育迟缓、指骨和脊椎畸形、关节松弛/脱位、心脏和肾脏缺陷以及面部畸形特征（包括斜头畸形，前额突出，双颞部狭窄，双侧眼缺损，内眦赘皮褶，外耳和中耳畸形，鼻梁宽，鼻孔前倾，球形鼻尖且突出，长人中，薄唇，高而窄的上腭，小颌畸形伴凸颌/缩颌，丰满的面颊，短而宽的颈部）。其他表现包括阻塞性呼吸暂停、复发性肺炎和癫痫发作。"},"tr":{"name":"8q24.3 mikrodelesyon sendromu","synonyms":["Del(8)(q24.3)","Delesyon 8q24.3","Monozomi 8q24.3","Verheij sendromu"]}},"xrefs":[{"source":"OMIM","code":"615583","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.80","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014263","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810023","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12814","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262065,"name":"Partial deletion of the long arm of chromosome 8 syndrome","classifications":[147,156]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"PUF60","name":"poly(U) binding splicing factor 60","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"27804958[PMID]","hgnc":"17042","ensembl":"ENSG00000179950","omim":"604819","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"27804958[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27804958[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-11","source":"3047248[PMID]_29738340[PMID]_28990276[PMID]_27804958[PMID]_26437074[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010722","label":"Asymmetry of the ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002474","label":"Expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","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:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004220","label":"Short middle phalanx of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000321","label":"Square face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000038","label":"Abnormality of cricoid cartilage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012584","label":"Bilateral renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009796","label":"Branchial cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000891","label":"Cervical ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010289","label":"Cleft maxillary alveolar ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001674","label":"Complete atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005176","label":"Dysplastic aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011755","label":"Ectopic posterior pituitary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011332","label":"Hemifacial hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011406","label":"Infancy onset short-trunk short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000744","label":"Low frustration tolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011067","label":"Mesiodens","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010733","label":"Naevus flammeus of the eyelid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000300","label":"Oval face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100033","label":"Tics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}