{"orpha":352530,"name":"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive intellectual disability due to TRAPPC9 deficiency"],"definition":"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352530/","orphanet_url":"https://www.orpha.net/en/disease/detail/352530","names":{"fr":{"name":"Syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale","synonyms":["Déficience intellectuelle autosomique récessive par déficit en TRAPPC9"],"definition":"Une déficience intellectuelle syndromique rare principalement caractérisée par un déficit intellectuel modéré à sévère, une microcéphalie relative à vraie, et des anomalies cérébrales incluant un corps calleux fin, une hypoplasie cérébelleuse, une hypoplasie cérébrale de la substance blanche et une hyperintensité multi-focale de la substance blanche à l'IRM. Les signes additionnels comprennent une obésité et une dysmorphie craniofaciale caractéristique (incluant une brachycéphalie, un visage rond, des sourcils droits, une synophridie, un hypertélorisme, un épicanthus, un pont nasal large et déprimé, des oreilles décollées avec le lobe tourné vers le haut, et les coins de la bouche orientés vers le bas)."},"de":{"name":"Intelligenzminderung-Adipositas-Hirnfehlbildungen-Gesichtsdysmorphie-Syndrom","synonyms":["Intelligenzminderung, autosomal-rezessive, durch TRAPPC9-Mangel"],"definition":"Eine seltene, syndromale Intelligenzminderung, die in erster Linie durch eine mäßige bis schwere geistige Beeinträchtigung, eine echte bis relative Mikrozephalie und Hirnanomalien wie ein dünnes Corpus callosum, eine Kleinhirnhypoplasie, eine Hypoplasie der zerebralen weißen Substanz und eine multifokale Hyperintensität der zerebralen weißen Substanz im MRT gekennzeichnet ist. Adipositas und ausgeprägte kraniofaziale Dysmorphie (einschließlich Brachyzephalie, rundes Gesicht, gerade Augenbrauen, Synophrys, Hypertelorismus, Epikanthus, breiter und vertiefter Nasenrücken, abstehende Ohren mit hochgezogenen Ohrläppchen, nach unten hängende Mundwinkel) sind zusätzliche Merkmale."},"es":{"name":"Síndrome de discapacidad intelectual-obesidad-malformaciones cerebrales-dismorfia facial","synonyms":["Discapacidad intelectual autosómica recesiva por deficiencia de TRAPPC9"],"definition":"El síndrome de discapacidad intelectual - obesidad - malformaciones cerebrales - dismorfia facial, es una discapacidad intelectual sindrómica poco frecuente, caracterizada fundamentalmente por discapacidad intelectual de moderada a grave, microcefalia verdadera a relativa y anomalías cerebrales, incluyendo cuerpo calloso delgado, hipoplasia cerebelar, hipoplasia de la sustancia blanca cerebral e hiperintensidad multifocal de la sustancia blanca cerebral en la RNM. Son características adicionales la obesidad y la dismorfia craneofacial distintiva (incluyendo braquicefalia, cara redonda, cejas rectas, sinofridia, hipertelorismo, epicanto, puente nasal ancho y deprimido, orejas prominentes con lóbulo elevado, comisuras bucales con inclinacion lateral hacia abajo)."},"it":{"name":"Sindrome disabilità intellettiva-obesità -malformazioni cerebrali-dismorfismi facciali","synonyms":["Deficit cognitivo autosomico recessivo da deficit di TRAPPC9"],"definition":"La sindrome da disabilità intellettiva-obesità-malformazioni cerebrali-dismorfismi facciali è una forma rara di disabilità intellettiva sindromica, caratterizzata prevalentemente da disabilità intellettiva moderata o grave, microcefalia vera o relativa e anomalie cerebrali (assottigliamento del corpo calloso, ipoplasia cerebellare, ipoplasia della sostanza bianca e iperintensità multifocale della sostanza bianca alla RMN). Altri segni clinici sono l'obesità e i dismorfismi cranio-facciali caratteristici (brachicefalia, viso arrotondato, sopracciglia diritte, sinofria, ipertelorismo, epicanto, sella nasale ampia e infossata, orecchie prominenti con lobi rivolti verso l'alto, angoli della bocca obliqui verso il basso)."},"nl":{"name":"Intellectuele achterstand - obesitas - hersenmalformaties - faciale dysmorfie-syndroom","synonyms":["Autosomaal recessieve intellectuele achterstand door TRAPPC9-deficiëntie"],"definition":"Intellectuele achterstand - obesitas - hersenmalformaties - faciale dysmorfie-syndroom is een zeldzame, syndromale intellectuele invaliditeit die voornamelijk gekarakteriseerd wordt door matige tot ernstige intellectuele achterstand, echte tot relatieve microcefalie, en hersenafwijkingen waaronder een dun corpus callosum, cerebellaire hypoplasie, hypoplasie van cerebrale witte stof, en multifocale hyperintensiteit van cerebrale witte stof op MRI. Obesitas en kenmerkende craniofaciale dysmorfie (waaronder brachycefalie, rond gelaat, rechte wenkbrauwen, synophrys (unibrauw), hypertelorisme, epicanthus (amandelogen), brede en ingedrukte neusbrug, uitstekende oren met opwaarts gerichte oorlel, naar beneden gerichte mondhoeken) zijn bijkomende kenmerken."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-obesidade-malformações cerebrais-dismorfia facial","synonyms":["Perturbação do desenvolvimento intelectual devido a deficiência de TRAPPC9 autossómica recessiva"]},"pl":{"name":"Niepełnosprawność intelektualna - otyłość - malformacje mózgu - dysmorfia twarzy","synonyms":["Autosomalna recesywna niepełnosprawność intelektualna z powodu niedoboru TRAPPC9"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, obezitu, vývojové vady mozku a faciální dysmorfismus","synonyms":["Autozomálně recesivní mentální retardace způsobená deficitem TRAPPC9"]},"uk":{"name":"Синдром інтелектуальної недостатності-ожиріння-вад розвитку головного мозку-дисморфізму обличчя","synonyms":["Аутосомно-рецесивна розумова відсталість внаслідок дефіциту TRAPPC9"],"definition":"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features."},"zh":{"name":"智力障碍-肥胖-脑畸形-面部畸形综合征","synonyms":["TRAPPC9基因缺陷所致常染色体隐性遗传智力障碍"],"definition":"智力障碍-肥胖-脑畸形-面部畸形综合征是一种罕见的综合征性智力障碍，主要表现为中度至重度智力障碍，与相对的小头畸形和大脑异常有关，包括胼胝体变薄，小脑发育不全，脑白质发育不全和多灶性脑白质高信号。其他特征包括肥胖和特殊的颅面畸形（包括短头、圆脸、直眉、连眉、眼距过宽、内眦赘皮、鼻梁宽而凹陷、耳突出伴耳垂上提、嘴角下垂）。"},"tr":{"name":"Zihinsel yetersizlik-obezite-beyin malformasyonları-yüz dismorfizm sendromu","synonyms":["TRAPPC9 eksikliğine bağlı otozomal çekinik zihinsel yetersizlik"]}},"xrefs":[{"source":"OMIM","code":"613192","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018123","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706414","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":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"TRAPPC9","name":"trafficking protein particle complex subunit 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22549410[PMID]","hgnc":"30832","ensembl":"ENSG00000167632","omim":"611966","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22549410[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-25","source":"20004765[PMID]_22549410[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002265","label":"Large fleshy ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007052","label":"Multifocal cerebral white matter abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011228","label":"Horizontal eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}