{"orpha":96092,"name":"8p inverted duplication/deletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Invdupdel(8p)","Inverted 8p duplication/deletion syndrome"],"definition":"A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96092/","orphanet_url":"https://www.orpha.net/en/disease/detail/96092","names":{"fr":{"name":"Syndrome de duplication/délétion inversée 8p","synonyms":["Invdupdel(8p)"],"definition":"Anomalie chromosomique rare caractérisée sur le plan clinique par une déficience intellectuelle légère à sévère, un retard de développement sévère (développement psychomoteur et du langage), une hypotonie avec tendance à développer ultérieurement une hypertonie progressive, et des traits faciaux caractéristiques. Les principales anomalies congénitales associées sont les malformations du système nerveux central (SNC) telles que l'hypoplasie/agénésie du corps calleux (80 %), les anomalies squelettiques, telles que la scoliose/la cyphose ou la luxation de la hanche (60 %), et les malformations cardiaques congénitales (25 %)."},"de":{"name":"8p-Invertierte Duplikation/Deletion-Syndrom","synonyms":["Invdupdel(8p)","Invertierte Duplikation/Deletion 8p"],"definition":"Eine seltene Chromosomenanomalie, die klinisch durch eine leichte bis schwere Intelligenzminderung, eine schwere Entwicklungsverzögerung (psychomotorische und sprachliche Entwicklung), Muskelhypotonie mit der Tendenz, einen zunehmenden Muskelhypertonus zu entwickeln, und charakteristische Gesichtszüge gekennzeichnet ist. Zu den wichtigsten kongenitalen Anomalien gehören Fehlbildungen des Zentralnervensystems (ZNS) wie Hypoplasie/Agenesie des Corpus callosum (80 %), Skelettanomalien wie Skoliose/Kyphose oder dislozierte Hüften (60 %) und kongenitale Herzfehler (25 %)."},"es":{"name":"Síndrome de duplicación/deleción invertida 8p","synonyms":["Invdupdel(8p)","Síndrome de duplicación/deleción 8p invertida"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada clínicamente por discapacidad intelectual de leve a grave, grave retraso del desarrollo (psicomotor y del habla), hipotonía con tendencia a desarrollar hipertonía progresiva posteriormente y rasgos faciales característicos. Las principales anomalías congénitas asociadas son malformaciones del sistema nervioso central (SNC), como hipoplasia/ agenesia del cuerpo calloso (80%); anomalías esqueléticas, como escoliosis/ cifosis o luxación de caderas (60%); y defectos cardíacos congénitos (25%)."},"it":{"name":"Sindrome da delezione/duplicazione invertita 8p","synonyms":["Invdupdel(8p)","Sindrome da delezione/duplicazione 8p invertita"],"definition":"La sindrome da delezione/duplicazione invertita 8p [invdupdel(8p)] è un'anomalia cromosomica rara caratterizzata, dal punto di vista clinico, da disabilità intellettiva lieve-grave, grave ritardo dello sviluppo (psicomotorio e del linguaggio), ipotonia con tendenza verso una successiva ipertonia progressiva, e dismorfismi facciali caratteristici. Le principali anomalie congenite comprendono le malformazioni del sistema nervoso centrale (SNC), come l'ipoplasia/agenesia del corpo calloso (80% dei pazienti), le anomalie scheletriche, come la scoliosi/cifosi e la dislocazione dell'anca (60%), e le cardiopatie congenite (25%)."},"nl":{"name":"8p geïnverteerde duplicatie/deletie-syndroom","synonyms":["Geïnverteerde 8p-duplicatie/deletie-syndroom","Invdupdel(8p)"],"definition":"Een zeldzame chromosomale anomalie, klinisch gekenmerkt door milde tot ernstige intellectuele achterstand, ernstige ontwikkelingsachterstand (psychomotorische en spraakontwikkeling), hypotonie met neiging om later progressieve hypertonie te ontwikkelen, en typische gelaatskenmerken. De voornaamste congenitale anomalieën die zijn geassocieerd, zijn malformaties van centraal zenuwstelsel (CZS) zoals hypoplasie/agenesie van corpus callosum (80%), skeletafwijkingen zoals scoliose/kyfose of luxatie van heup (60%), en congenitale hartdefecten (25%)."},"pt":{"name":"Duplicação invertida/deleção de 8p","definition":"A síndrome de duplicação/deleçãoinvertida 8p [invdupdel (8p)] é uma anomalia cromossómica rara caracterizada clinicamente por défice intelectual ligeiro a grave, atraso grave de desenvolvimento (psicomotor e desenvolvimento da fala), hipotonia com tendência a desenvolver hipertonia progressiva, problemas ortopédicos graves ao longo do tempo, anomalias faciais discretas e agenesia do corpo caloso"},"pl":{"name":"Zespół odwróconej duplikacji/delecji 8p","synonyms":["Invdupdel(8p)","Zespół odwróconej duplikacji/delecji 8p"]},"cs":{"name":"Syndrom invertované duplikace/delece 8p","synonyms":["Invdupdel(8p)"]},"uk":{"name":"Синдром інвертованої дуплікації/делеції 8p","synonyms":["Invdupdel(8p)","Синдром інвертованої 8p дуплікації/делеції"],"definition":"A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%)."},"zh":{"name":"8号染色体短臂倒转复制/缺失综合征","synonyms":["倒转8号染色体短臂重复/缺失综合征"],"definition":"8号染色体短臂倒置重复/缺失[invdupdel(8p)]综合征是一种罕见的染色体异常，临床表现为轻度到重度智力缺陷、严重的发育迟缓（精神运动和语言发育）、肌张力减退（随着时间推移，可进展为进行性张力增高和严重的骨科问题）、轻微面部异常和胼胝体发育不全。"},"tr":{"name":"8p invert duplikasyon / delesyon sendromu","synonyms":["Invdupdel (8p)","Ters 8p duplikasyon / delesyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.P","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"476283268"},{"source":"MONDO","code":"0019876","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273676","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":263708,"name":"Complex chromosomal rearrangement syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"Italy","status":"Validated","source":"11231899[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-06","source":"610424[PMID]_8256810[PMID]_10869109[PMID]_12920085[PMID]_16773506[PMID]_21259039[PMID]_24502041[PMID]_8599364[PMID]_www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf[OTHER]_20880309[PMID]_12225557[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","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:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005656","label":"Positional foot deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006292","label":"Abnormality of dental eruption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011466","label":"Aplasia/Hypoplasia of the gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005781","label":"Contractures of the large joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010487","label":"Small hypothenar eminence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}