{"orpha":329329,"name":"Autosomal recessive frontotemporal pachygyria","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329329/","orphanet_url":"https://www.orpha.net/en/disease/detail/329329","names":{"fr":{"name":"Pachygyrie frontotemporale autosomique récessive","definition":"Malformation cérébrale caractérisée par une pachygyrie bilatérale symétrique et un périmètre crânien normal, en l'absence de polymicrogyrie. Les manifestations cliniques comprennent un retard de développement, une déficience intellectuelle modérée, un tonus musculaire et des réflexes tendineux profonds normaux ou légèrement diminués, un télécanthus ou un hypertélorisme."},"de":{"name":"Pachygyrie, frontotemporale, autosomal-rezessive"},"es":{"name":"Paquigiria frontotemporal autosómica recesiva","definition":"Es una malformación cerebral caracterizada por paquigiria bilateral simétrica con perímetro cefálico dentro de los parámetros de normalidad y sin polimicrogiria. Las manifestaciones clínicas incluyen retraso del desarrollo, discapacidad intelectual moderada, tono muscular y reflejos tendinosos profundos normales o ligeramente reducidos, telecanto o hipertelorismo."},"it":{"name":"Pachigira frontotemporale autosomica recessiva","definition":"La pachigiria frontotemporale autosomica recessiva è una malformazione cerebrale caratterizzata da pachigiria bilaterale simmetrica, con circonferenza cranica normale e in assenza di polimicrogiria. I segni clinici comprendono il ritardo dello sviluppo, la disabilità intellettiva moderata, il tono muscolare normale o lievemente ridotto, i riflessi tendinei profondi, il telecanto o l'ipertelorismo."},"nl":{"name":"Autosomaal recessieve frontotemporale pachygyrie","definition":"Een cerebrale malformatie, gekarakteriseerd door symmetrische, bilaterale pachygyrie met normale hoofdomtrek en zonder polymicrogyrie. Klinische manifestaties zijn onder meer ontwikkelingsachterstand, matige intellectuele achterstand, normale of licht verminderde spiertonus en diepe peesreflexen, telecanthus en hypertelorisme."},"pt":{"name":"Paquigiria frontotemporal autossómica recessiva"},"pl":{"name":"Autosomalna recesywna szerokozakrętowość czołowo-skroniowa","definition":"*Autosomalna recesywna szerokozakrętowość czołowo-skroniowa to wada mózgowia, która charakteryzuje się symetryczną, obustronną pachygyrią z prawidłowym obwodem głowy, bez polimikrogyrii (drobnozakrętowości). Objawy kliniczne obejmują opóźnienie rozwoju, umiarkowaną niepełnosprawność intelektualną, prawidłowe lub nieznacznie obniżone napięcie mięśniowe, osłabienie odruchów, telekantus lub hiperteloryzm."},"cs":{"name":"Autozomálně recesivní frontotemporální pachygyrie"},"uk":{"name":"Аутосомно-рецесивна лобно-скронева пахігірія","definition":"A cerebral malformation characterized by symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism."},"zh":{"name":"常染色体隐性额颞部无脑回畸形","definition":"以对称性双侧无脑回畸形伴正常头围、不伴皮质发育畸形为特征的脑畸形。临床表现包括发育迟缓、中度智力障碍、肌张力和深部肌腱反射正常或稍有下降、内眦距过宽或眼距过宽。"},"tr":{"name":"Otozomal resesif frontotemporal pakigiri"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012462","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853215","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":163209,"name":"Non-syndromic cerebral malformation due to abnormal neuronal migration","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23022981[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":"2016-10-24","source":null,"terms":[{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","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:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null}]}}