{"orpha":264450,"name":"Trisomy 8p syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duplication 8p"],"definition":"Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-264450/","orphanet_url":"https://www.orpha.net/en/disease/detail/264450","names":{"fr":{"name":"Syndrome de trisomie 8p","synonyms":["Duplication 8p"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la duplication partielle du bras court du chromosome 8. Le phénotype est très variable, allant de signes dysmorphiques et un déficit intellectuel léger, à des patients présentant un retard de développement sévère, une hypotonie néonatale, une petite taille, un déficit intellectuel profond, une dysmorphie faciale légère (léger ptosis, hypertélorisme, fentes palpébrales obliques en bas et en dehors, pont nasal large, philtrum court et proéminent, dentition anormale) et des anomalies cérébrales structurales. Un autisme, une épilepsie et une paraplégie spastique ont aussi été rapportés."},"de":{"name":"Trisomie 8p","synonyms":["Duplikation 8p"],"definition":"Die Trisomie 8p ist eine seltene Chromosomenanomalie, die aus einer partiellen Duplikation des kurzen Arms von Chromosom 8 resultiert. Das Erscheinungsbild ist sehr variabel und reicht von Phänotypen ohne dysmorphe Merkmale und nur leichter Intelligenzminderung bis hin zu Betroffenen mit schwerer Entwicklungsverzögerung, neonataler Hypotonie, Kleinwuchs, schwerer Intelligenzminderung, leichten dysmorphen Merkmalen (z. B. leichte Ptosis, Hypertelorismus, schräge Lidspalte, breiter Nasenrücken, kurzes, prominentes Phonium, anormales Gebiss) und strukturellen Hirnanomalien. z. B. leichte Ptosis, Hypertelorismus, schräg nach unten verlaufende Lidspalten, breiter Nasenrücken, kurzes, ausgeprägtes Philtrum, abnormes Gebiss) und strukturelle Hirnanomalien. Es wurde auch über Autismus, Epilepsie und spastische Paraplegie berichtet."},"es":{"name":"Síndrome de trisomía 8p","synonyms":["Duplicación 8p"],"definition":"La trisomía 8p es un síndrome de anomalías cromosómicas poco frecuente, que resulta de la duplicación parcial del brazo corto del cromosoma 8, con un fenotipo altamente variable que oscila desde características no dismórficas y leve discapacidad intelectual a afectados con retraso grave del desarrollo, hipotonía neonatal, talla baja, discapacidad intelectual profunda, características dismórficas leves (p. ej, ptosis leve, hipertelorismo, fisuras palpebrales inclinadas hacia abajo, puente nasal ancho, surco nasolabial corto y prominente, dentición anómala) y anomalías cerebrales estructurales. También se ha notificado autismo, epilepsia y paraplejia espástica."},"it":{"name":"Sindrome trisomia 8p","synonyms":["Duplicazione 8p"],"definition":"La trisomia 8p è un'anomalia cromosomica rara causata dalla duplicazione parziale del braccio corto del cromosoma 8. Il quadro clinico è molto variabile; i pazienti possono essere privi di dismorfismi e presentare solo una lieve disabilità intellettiva, oppure grave ritardo dello sviluppo, ipotonia neonatale, bassa statura, grave disabilità intellettiva, dismorfismi (lieve ptosi, ipertelorismo, rime palpebrali oblique verso il basso, sella nasale ampia, filtro corto e prominente, anomalie della dentizione) e difetti della struttura cerebrale. Possono associarsi autismo, epilessia e paraplegia spastica."},"nl":{"name":"Trisomie 8p-syndroom","synonyms":["Duplicatie 8p"],"definition":"Trisomie 8p is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële duplicatie van de korte arm van chromosoom 8, en heeft een zeer variabel fenotype gaande van geen dysmorfe kenmerken en enkel milde intellectuele achterstand tot ernstige ontwikkelingsachterstand, neonatale hypotonie, kleine gestalte, ernstige intellectuele achterstand, milde dysmorfe kenmerken (e.g. milde ptose, hypertelorisme, neerwaartse ooglidspleten, brede neusbrug, kort en uitgesproken filtrum, abnormaal gebit) en structurele afwijkingen van de hersenen. Autisme, epilepsie, en spastische paraplegie werden ook reeds gerapporteerd."},"pt":{"name":"Trissomia 8p"},"pl":{"name":"Zespół trisomii 8p","synonyms":["Duplikacja 8p"]},"cs":{"name":"Trizomie 8p","synonyms":["Duplikace 8p"]},"uk":{"name":"Трисомія 8p","synonyms":["Дуплікація 8p"],"definition":"Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported."},"zh":{"name":"8号染色体长臂三体","synonyms":["8p重复"],"definition":"8p三体是一种罕见的染色体异常综合征，由8号染色体短臂部分重复引起，表型高度异质，从无畸形特征和仅轻度智力障碍到严重发育迟缓、新生儿肌张力低下、身材矮小、严重智力障碍、轻度畸形特征(如轻度上睑下垂、眼距过宽、眼裂下斜、鼻梁宽大、人中短/突出、牙列异常)和脑结构异常。自闭症、癫痫和痉挛性截瘫也有报道。"},"tr":{"name":"Trizomi 8p","synonyms":["Duplikasyon 8p"]}},"xrefs":[{"source":"ICD-10","code":"Q92.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017013","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538019","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795825","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262758,"name":"Partial duplication of the short arm of chromosome 8 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Worldwide","status":"Validated","source":"38622524[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-09","source":"527246[PMID]_7211950[PMID]_19041960[PMID]_2267231[PMID]_6982667[PMID]_1126055[PMID]","terms":[{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011466","label":"Aplasia/Hypoplasia of the gallbladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009913","label":"Aplasia/Hypoplasia of the tragus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040018","label":"Clinodactyly of hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040022","label":"Clinodactyly of the 2nd finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011918","label":"Clinodactyly of the 4th toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001864","label":"Clinodactyly of the 5th toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010945","label":"Fetal pyelectasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005495","label":"Metopic suture patent to nasal root","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010034","label":"Short 1st metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004704","label":"Short fifth metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004689","label":"Short fourth metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011939","label":"3-4 finger cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011546","label":"Abnormal atrioventricular connection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001711","label":"Abnormal left ventricle morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000633","label":"Decreased lacrimation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005176","label":"Dysplastic aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004794","label":"Malrotation of small bowel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008609","label":"Morphological abnormality of the middle ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}