{"orpha":319192,"name":"Diencephalic-mesencephalic junction dysplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319192/","orphanet_url":"https://www.orpha.net/en/disease/detail/319192","names":{"fr":{"name":"Dysplasie de la jonction diencéphale-mésencéphale","definition":"Une malformation cérébrale génétique rare, non syndromique. Elle se caractérise par un déficit intellectuel sévère, une microcéphalie post-natale progressive, une hypotonie axiale, une tétraplégie spastique, des convulsions et une dysmorphie faciale (sourcils broussailleux, front velu, large racine nasale, philtrum long et plat, lèvre supérieure en forme de V). Les autres manifestations pouvant être associées sont des pieds bots varus équins, une cardiomyopathie non obstructive, une persistance et hyperplasie du vitré primitif, une hydrocéphalie obstructive et des signes autistiques. Le signe du papillon est observé de manière spécifique à l'imagerie par résonance magnétique (IRM) cérébrale, et des calcifications corticales ont aussi été décrites, ainsi qu'une agénésie du corps calleux, une ventriculomégalie, une dysplasie du tronc cérébral et une hypoplasie du vermis cérébelleux."},"de":{"name":"Dienzephalisch-mesenzephalisch junktionale Dysplasie","definition":"Eine seltene, genetische nicht-syndromale Hirnfehlbildung, die durch schwere Intelligenzminderung, progressive postnatale Mikrozephalie, axiale Hypotonie, spastische Quadriparese, Krampfanfälle und Gesichtsdysmorphie (buschige Augenbrauen, behaarte Stirn, breite Nasenwurzel, langes flaches Philtrum, V-förmige Oberlippe) gekennzeichnet ist. Zusätzlich können Klumpfüße, eine nicht-obstruktive Kardiomyopathie, ein persistierender hyperplastischer primärer Glaskörper, ein obstruktiver Hydrozephalus und autistische Züge assoziiert sein. Die Magnetresonanztomographie des Gehirns zeigt das charakteristische ''Schmetterlingszeichen'', kortikale Verkalkungen, Agenesie des Corpus callosum, Ventrikulomegalie, Hirnstammdysplasie und Kleinhirnhypoplasie."},"es":{"name":"Displasia de la unión diencéfalo-mesencefálica","definition":"Es una malformación cerebral no sindrómica, genética poco frecuente, caracterizada por grave discapacidad intelectual, microcefalia postnatal progresiva, hipotonía axial, cuadriparesia espástica, convulsiones y dismorfia facial (cejas pobladas, hipertricosis frontal, raíz nasal ancha, filtrum plano y largo, labio superior en forma de V invertida). Adicionalmente, también pueden asociarse pie equinovaro, miocardiopatía no obstructiva, vítreo primario hiperplásico persistente, hidrocefalia obstructiva y rasgos autistas. En las imágenes de resonancia magnética cerebral, es característico el \"signo de mariposa\" y también se han descrito calcificaciones corticales, agenesia del cuerpo calloso, ventriculomegalia, displasia del tronco encefálico e hipoplasia del vermis cerebeloso."},"it":{"name":"Displasia della giunzione diencefalo-mesencefalica","definition":"La displasia della giunzione diencefalo-mesencefalica è una malformazione cerebrale rara non sindromica, di origine genetica, caratterizzata da disabilità intellettiva grave, microcefalia postnatale progressiva, ipotonia assiale, tetraparesi spastica, crisi epilettiche e dismorfismi facciali (sopracciglia folte, ipertricosi sulla fronte, radice del naso ampia, filtro lungo e piatto, labbro superiore a forma di ''V''). Possono inoltre essere presenti piedi equino-vari, cardiomiopatia non ostruttiva, persistenza e iperplasia del vitreo primitivo, idrocefalo ostruttivo e tratti autistici. La risonanza magnetica del cervello evidenzia il caratteristico ''segno della farfalla'', calcificazioni corticali, agenesia del corpo calloso, ventricolomegalia, displasia del tronco encefalico e ipoplasia del verme cerebellare."},"nl":{"name":"Diëncefale-mesencefale junctiedysplasie","synonyms":["Dysplasie van verbinding tussen diencephalon en mesencephalon"],"definition":"Diëncefale-mesencefale junctiedysplasie is een zeldzame, genetische, niet-syndromale cerebrale malformatie die gekarakteriseerd wordt door ernstige intellectuele achterstand, progressieve postnatale microcefalie, axiale hypotonie, spastische quadriparese, insulten en faciale dysmorfie (borstelige wenkbrauwen, harig voorhoofd, brede neuswortel, lang en vlak filtrum, V-vormige bovenlip). Bijkomend kunnen ook talipes equinovarus, niet-obstructieve cardiomyopathie, persisterend hyperplastisch primair glasachtig lichaam, obstructieve hydrocefalie en autistische kenmerken geassocieerd zijn. Bij beeldvorming van de hersenen met magnetische resonantie wordt gewoonlijk het 'vlinderteken' waargenomen, en corticale verkalkingen, agenesie van het corpus callosum, ventriculomegalie, dysplasie van de hersenstam en hypoplasie van de cerebellaire vermis werden ook reeds beschreven."},"pt":{"name":"Displasia da junção diencéfalo - mesencéfalo"},"pl":{"name":"Dysplazja połączenia międzymózgowo-śródmózgowego"},"cs":{"name":"Diencefalická-mezencefalická junkční dysplázie"},"uk":{"name":"Дисплазія діенцефально-мезенцефального переходу","definition":"Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described."},"zh":{"name":"间脑-中脑连接发育不良","definition":"间脑-中脑连接部发育不良是一种罕见的遗传性非综合征性脑畸形，其特征为严重智力障碍、进行性产后小头畸形、轴性肌张力减退、痉挛性四肢瘫痪、癫痫发作和面部畸形（眉毛浓密、额头多毛、鼻根宽大、人中长而扁平、上唇V形）。此外，马蹄内翻足、非阻塞性心肌病、原发性玻璃体持续增生、阻塞性脑积水和自闭症特征也可能与此相关。在脑磁共振成像上，可见到特征性“蝴蝶征”、皮质钙化、胼胝体发育不全、脑室扩大、脑干发育不良和小脑蚓部发育不全。"},"tr":{"name":"Diensefalik-mezensefalik bağlantı displazisi"}},"xrefs":[{"source":"OMIM","code":"251280","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618646","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017868","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707858","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269553,"name":"Genetic cerebral malformation","classifications":[156]},{"orpha":199633,"name":"Non-syndromic cerebral malformation","classifications":[147,181]}],"children":[],"genes":[{"symbol":"GSX2","name":"GS homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31412107[PMID]","hgnc":"24959","ensembl":"ENSG00000180613","omim":"616253","loci":["4q12"]},{"symbol":"PCDH12","name":"protocadherin 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30178464[PMID]","hgnc":"8657","ensembl":"ENSG00000113555","omim":"605622","loci":["5q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"3307411[PMID]_1395086[PMID]_7774041[PMID]_22822038[PMID]_ 30178464[PMID]_39119454[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"3307411[PMID]_1395086[PMID]_7774041[PMID]_22822038[PMID]_ 30178464[PMID]_39119454[PMID]_ORPHANET"}],"phenotypes":null}