{"orpha":2477,"name":"Isolated megalencephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2477/","orphanet_url":"https://www.orpha.net/en/disease/detail/2477","names":{"fr":{"name":"Mégalencéphalie isolée","synonyms":["Macroencéphalie"],"definition":"Malformation rare du système nerveux central, caractérisée par un volume excessif du cerveau et un périmètre crânien supérieur à la normale, visible à la naissance ou se développant au cours des premières années de vie. La maladie peut être unilatérale ou bilatérale et touche plus souvent les hommes que les femmes. Il n'existe pas de tableau clinique typique, mais une déficience intellectuelle, des crises convulsives et d'autres anomalies neurologiques ont été rapportées."},"de":{"name":"Megalenzephalie, isolierte","synonyms":["Makroenzephalie"],"definition":"Eine seltene Fehlbildung des Zentralnervensystems, die durch ein abnorm großes Gehirn gekennzeichnet ist und mit abnormen Kopfumfangsmessungen einhergeht, die bei der Geburt oder in den ersten Lebensjahren auftreten. Die Erkrankung kann ein- oder beidseitig sein und betrifft Männer häufiger als Frauen. Es gibt kein typisches Muster von Symptomen, aber es wurde über Intelligenzminderung, Krampfanfälle und andere neurologische Anomalien berichtet."},"es":{"name":"Megalencefalia aislada","definition":"Es una malformación poco frecuente del sistema nervioso central caracterizada por un agrandamiento cerebral anómalo acompañado de una medida del perímetro cefálico elevada, evidente al nacimiento o que se desarrolla durante los primeros años de vida. La afección puede ser unil- o bilateral, afectando a los hombres con mayor frecuencia que a las mujeres. No existe un patrón de síntomas típico, aunque se ha descrito discapacidad intelectual, crisis epilépticas y otras anomalías neurológicas."},"it":{"name":"Megalencefalia","synonyms":["Macroencefalia"],"definition":"Si tratta di una malformazione rara del sistema nervoso centrale, caratterizzata da un volume eccessivo del cervello, associato ad una circonferenza cranica anomala, che può essere congenita oppure manifestarsi nei primi anni di vita. La malformazione può essere mono- o bilaterale e colpisce maggiormente i maschi. Non si associa ad un quadro clinico caratteristico, ma sono stati descritti pazienti con ritardo mentale, crisi epilettiche e altre anomalie neurologiche."},"nl":{"name":"Geïsoleerde megalencefalie","definition":"Een zeldzame malformatie van centraal zenuwstelsel, gekarakteriseerd door abnormaal grote hersenen, vergezeld van een abnormale hoofdomtrek die duidelijk is bij de geboorte of zich gedurende het eerste levensjaar ontwikkelt. De aandoening kan unilateraal of bilateraal zijn, en treft vaker mannen dan vrouwen. Er is geen typisch patroon van symptomen, maar mentale retardatie, insulten, en andere neurologische afwijkingen werden gerapporteerd."},"pt":{"name":"Megalencefalia isolada"},"pl":{"name":"Megalencefalia","synonyms":["Macrencephaly"]},"cs":{"name":"Megalencefalie","synonyms":["Makrocefalie"]},"uk":{"name":"Мегаленцефалія","synonyms":["Макроенцефалія"],"definition":"A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported."},"zh":{"name":"巨脑","synonyms":["巨脑"]},"tr":{"name":"Megalensefali","synonyms":["Makroensefali"]}},"xrefs":[{"source":"OMIM","code":"155350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"248000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA05.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"368780653"},{"source":"MONDO","code":"0016608","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2720434","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":268920,"name":"OBSOLETE: Isolated megalencephaly","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269553,"name":"Genetic cerebral malformation","classifications":[156]},{"orpha":199633,"name":"Non-syndromic cerebral malformation","classifications":[147,181]}],"children":[],"genes":[{"symbol":"TBC1D7","name":"TBC1 domain family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23687350[PMID]","hgnc":"21066","ensembl":"ENSG00000145979","omim":"612655","loci":["6p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Frequent (79-30%)","criteria":null}]}}